{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:22:35Z","timestamp":1790965355606,"version":"4.1.0"},"reference-count":171,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2021,6,5]],"date-time":"2021-06-05T00:00:00Z","timestamp":1622851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Australian National Health and Medical Research Council"},{"name":"Royal Society and Wolfson Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>STUDY QUESTION<\/jats:title>\n                    <jats:p>What are the causative genetic variants in patients with male infertility due to severe sperm motility disorders?<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>SUMMARY ANSWER<\/jats:title>\n                    <jats:p>We identified high confidence disease-causing variants in multiple genes previously associated with severe sperm motility disorders in 10 out of 21 patients (48%) and variants in novel candidate genes in seven additional patients (33%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>WHAT IS KNOWN ALREADY<\/jats:title>\n                    <jats:p>Severe sperm motility disorders are a form of male infertility characterised by immotile sperm often in combination with a spectrum of structural abnormalities of the sperm flagellum that do not affect viability. Currently, depending on the clinical sub-categorisation, up to 50% of causality in patients with severe sperm motility disorders can be explained by pathogenic variants in at least 22 genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY DESIGN, SIZE, DURATION<\/jats:title>\n                    <jats:p>We performed exome sequencing in 21 patients with severe sperm motility disorders from two different clinics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>PARTICIPANTS\/MATERIALS, SETTING, METHOD<\/jats:title>\n                    <jats:p>Two groups of infertile men, one from Argentina (n\u2009=\u20099) and one from Australia (n\u2009=\u200912), with clinically defined severe sperm motility disorders (motility &amp;lt;5%) and normal morphology values of 0\u20134%, were included. All patients in the Argentine cohort were diagnosed with DFS-MMAF, based on light and transmission electron microscopy. Sperm ultrastructural information was not available for the Australian cohort. Exome sequencing was performed in all 21 patients and variants with an allele frequency of &amp;lt;1% in the gnomAD population were prioritised and interpreted.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>MAIN RESULTS AND ROLE OF CHANCE<\/jats:title>\n                    <jats:p>In 10 of 21 patients (48%), we identified pathogenic variants in known sperm assembly genes: CFAP43 (3 patients); CFAP44 (2 patients), CFAP58 (1 patient), QRICH2 (2 patients), DNAH1 (1 patient) and DNAH6 (1 patient). The diagnostic rate did not differ markedly between the Argentinian and the Australian cohort (55% and 42%, respectively). Furthermore, we identified patients with variants in the novel human candidate sperm motility genes: DNAH12, DRC1, MDC1, PACRG, SSPL2C and TPTE2. One patient presented with variants in four candidate genes and it remains unclear which variants were responsible for the severe sperm motility defect in this patient.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LARGE SCALE DATA<\/jats:title>\n                    <jats:p>N\/A<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LIMITATIONS, REASONS FOR CAUTION<\/jats:title>\n                    <jats:p>In this study, we described patients with either a homozygous or two heterozygous candidate pathogenic variants in genes linked to sperm motility disorders. Due to unavailability of parental DNA, we have not assessed the frequency of de novo or maternally inherited dominant variants and could not determine the parental origin of the mutations to establish in all cases that the mutations are present on both alleles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>WIDER IMPLICATIONS OF THE FINDINGS<\/jats:title>\n                    <jats:p>Our results confirm the likely causal role of variants in six known genes for sperm motility and we demonstrate that exome sequencing is an effective method to diagnose patients with severe sperm motility disorders (10\/21 diagnosed; 48%). Furthermore, our analysis revealed six novel candidate genes for severe sperm motility disorders. Genome-wide sequencing of additional patient cohorts and re-analysis of exome data of currently unsolved cases may reveal additional variants in these novel candidate genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY FUNDING\/COMPETING INTEREST(S)<\/jats:title>\n                    <jats:p>This project was supported in part by funding from the Australian National Health and Medical Research Council (APP1120356) to M.K.O.B., J.A.V. and R.I.M.L., The Netherlands Organisation for Scientific Research (918-15-667) to J.A.V., the Royal Society and Wolfson Foundation (WM160091) to J.A.V., as well as an Investigator Award in Science from the Wellcome Trust (209451) to J.A.V. and Grants from the National Research Council of Argentina (PIP 0900 and 4584) and ANPCyT (PICT 9591) to H.E.C. and a UUKi Rutherford Fund Fellowship awarded to B.J.H.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/humrep\/deab099","type":"journal-article","created":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T15:45:43Z","timestamp":1617810343000},"page":"2597-2611","source":"Crossref","is-referenced-by-count":76,"title":["Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders"],"prefix":"10.1093","volume":"36","author":[{"given":"M S","family":"Oud","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B J","family":"Houston","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, Monash University, Monash, Australia"},{"name":"School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Volozonoka","sequence":"additional","affiliation":[{"name":"Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia"},{"name":"Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F K","family":"Mastrorosa","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G S","family":"Holt","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B K S","family":"Alobaidi","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P F","family":"deVries","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Astuti","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Ramos","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R I","family":"Mclachlan","sequence":"additional","affiliation":[{"name":"Hudson Institute of Medical Research, Monash University, Clayton, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M K","family":"O\u2019Bryan","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, Monash University, Monash, Australia"},{"name":"School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Veltman","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H E","family":"Chemes","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d CEDIE-CONICET-FEI, Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Sheth","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"},{"name":"Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,6,5]]},"reference":[{"key":"2021082017441033300_deab099-B1","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1083\/jcb.66.2.225","article-title":"Lack of dynein arms in immotile human spermatozoa","volume":"66","author":"Afzelius","year":"1975","journal-title":"J Cell Biol"},{"key":"2021082017441033300_deab099-B2","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1093\/humrep\/dew262","article-title":"Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations","volume":"31","author":"Amiri-Yekta","year":"2016","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B3","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ajhg.2018.07.013","article-title":"Loss of calmodulin- and radial-spoke-associated complex protein CFAP251 leads to immotile spermatozoa lacking mitochondria and infertility in men","volume":"103","author":"Auguste","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B4","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1083\/jcb.88.1.102","article-title":"Human dynein and sperm pathology","volume":"88","author":"Baccetti","year":"1981","journal-title":"J Cell Biol"},{"key":"2021082017441033300_deab099-B5","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ajhg.2013.11.017","article-title":"Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella","volume":"94","author":"Ben Khelifa","year":"2014","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B6","doi-asserted-by":"crossref","first-page":"2071","DOI":"10.1093\/humrep\/dez166","article-title":"CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report","volume":"34","author":"Beurois","year":"2019","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B7","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1095\/biolreprod.102.013466","article-title":"A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum","volume":"68","author":"Brown","year":"2003","journal-title":"Biol Reprod"},{"key":"2021082017441033300_deab099-B8","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1080\/01913120309930","article-title":"Absence of nexin links as a possible cause of primary ciliary dyskinesia","volume":"27","author":"Carlen","year":"2003","journal-title":"Ultrastruct Pathol"},{"key":"2021082017441033300_deab099-B9","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/S0015-0282(16)59482-5","article-title":"Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility","volume":"48","author":"Chemes","year":"1987","journal-title":"Fertil Steril"},{"key":"2021082017441033300_deab099-B10","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/j.1365-2605.1990.tb00979.x","article-title":"Extreme asthenozoospermia and chronic respiratory disease: a new variant of the immotile cilia syndrome","volume":"13","author":"Chemes","year":"1990","journal-title":"Int J Androl"},{"key":"2021082017441033300_deab099-B11","doi-asserted-by":"crossref","first-page":"2521","DOI":"10.1093\/humrep\/13.9.2521","article-title":"Ultrastructural pathology of the sperm flagellum: association between flagellar pathology and fertility prognosis in severely asthenozoospermic men","volume":"13","author":"Chemes","year":"1998","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B12","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.ajhg.2018.12.013","article-title":"Bi-allelic mutations in ARMC2 lead to severe astheno-teratozoospermia due to sperm flagellum malformations in humans and mice","volume":"104","author":"Coutton","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B13","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1038\/s41467-017-02792-7","article-title":"Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human","volume":"9","author":"Coutton","year":"2018","journal-title":"Nat Commun"},{"key":"2021082017441033300_deab099-B14","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.ajhg.2018.03.007","article-title":"Absence of CFAP69 causes male infertility due to multiple morphological abnormalities of the flagella in human and mouse","volume":"102","author":"Dong","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B15","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/0140-6736(90)92066-Q","article-title":"Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens","volume":"336","author":"Dumur","year":"1990","journal-title":"Lancet"},{"key":"2021082017441033300_deab099-B16","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.prrv.2009.02.001","article-title":"Ciliary defects and genetics of primary ciliary dyskinesia","volume":"10","author":"Escudier","year":"2009","journal-title":"Paediatr Respir Rev"},{"key":"2021082017441033300_deab099-B17","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1007\/s11255-015-1059-0","article-title":"A systematic review of recent clinical practice guidelines and best practice statements for the evaluation of the infertile male","volume":"47","author":"Esteves","year":"2015","journal-title":"Int Urol Nephrol"},{"key":"2021082017441033300_deab099-B18","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1165\/rcmb.2008-0102OC","article-title":"Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype","volume":"40","author":"Fernandez-Gonzalez","year":"2009","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2021082017441033300_deab099-B19","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1038\/gim.2016.225","article-title":"A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes","volume":"19","author":"Gershoni","year":"2017","journal-title":"Genet Med"},{"key":"2021082017441033300_deab099-B20","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1126\/science.1262110","article-title":"Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans","volume":"348","author":"GTEx","year":"2015","journal-title":"Science"},{"key":"2021082017441033300_deab099-B21","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1194\/jlr.M026021","article-title":"A human phospholipid phosphatase activated by a transmembrane control module","volume":"53","author":"Halaszovich","year":"2012","journal-title":"J Lipid Res"},{"key":"2021082017441033300_deab099-B22","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1136\/jmedgenet-2018-105486","article-title":"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella","volume":"56","author":"He","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B23","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.ajhg.2020.07.010","article-title":"Bi-allelic loss-of-function variants in CFAP58 cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice","volume":"107","author":"He","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B24","first-page":"247","article-title":"O'Bryan MK. Programmed cell death 2-like (Pdcd2l) is required for mouse embryonic development","volume":"7","author":"Houston","year":"2020","journal-title":"G3 (Bethesda)"},{"key":"2021082017441033300_deab099-B25","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/mrd.23120","article-title":"ENU-induced mutant allele of Dnah1, ferf1, causes abnormal sperm behavior and fertilization failure in mice","volume":"86","author":"Hu","year":"2019","journal-title":"Mol Reprod Dev"},{"key":"2021082017441033300_deab099-B26","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1101\/gad.2030811","article-title":"MDC1 directs chromosome-wide silencing of the sex chromosomes in male germ cells","volume":"25","author":"Ichijima","year":"2011","journal-title":"Genes Dev"},{"key":"2021082017441033300_deab099-B27","author":"Jungwirth","year":"2018"},{"key":"2021082017441033300_deab099-B28","doi-asserted-by":"crossref","first-page":"e1033","DOI":"10.1002\/mgg3.1033","article-title":"Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection","volume":"8","author":"Keicho","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"2021082017441033300_deab099-B29","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.ajhg.2018.07.014","article-title":"A homozygous ancestral SVA-insertion-mediated deletion in WDR66 induces multiple morphological abnormalities of the sperm flagellum and male infertility","volume":"103","author":"Kherraf","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B30","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1111\/cge.13604","article-title":"Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations","volume":"96","author":"Kherraf","year":"2019","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B31","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1016\/j.str.2016.06.011","article-title":"The human centriolar protein CEP135 contains a two-stranded coiled-coil domain critical for microtubule binding","volume":"24","author":"Kraatz","year":"2016","journal-title":"Structure"},{"key":"2021082017441033300_deab099-B32","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng1853","article-title":"A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism","volume":"38","author":"Koolen","year":"2006","journal-title":"Nat Genet"},{"key":"2021082017441033300_deab099-B33","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1038\/nm.2380","article-title":"Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome","volume":"17","author":"Lancaster","year":"2011","journal-title":"Nat Med"},{"key":"2021082017441033300_deab099-B34","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1242\/dev.119834","article-title":"A MEIG1\/PACRG complex in the manchette is essential for building the sperm flagella","volume":"142","author":"Li","year":"2015","journal-title":"Development"},{"key":"2021082017441033300_deab099-B35","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmedgenet-2019-106344","article-title":"Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice","volume":"57","author":"Li","year":"2029","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B36","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1111\/cge.13525","article-title":"DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella","volume":"95","author":"Li","year":"2019","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B37","doi-asserted-by":"crossref","first-page":"e1005821","DOI":"10.1371\/journal.pgen.1005821","article-title":"DNAH6 and its interactions with PCD genes in heterotaxy and primary ciliary dyskinesia","volume":"12","author":"Li","year":"2016","journal-title":"PLoS Genet"},{"key":"2021082017441033300_deab099-B38","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1016\/j.ajhg.2019.10.010","article-title":"Bi-allelic mutations in TTC29 cause male subfertility with asthenoteratospermia in humans and mice","volume":"105","author":"Liu","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B39","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1136\/jmedgenet-2019-106011","article-title":"Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility","volume":"57","author":"Liu","year":"2029","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B40","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.ajhg.2019.02.020","article-title":"Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and mice","volume":"104","author":"Liu","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B41","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1136\/jmedgenet-2018-105952","article-title":"Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)","volume":"56","author":"Liu","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B42","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.jgg.2018.09.006","article-title":"Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia","volume":"46","author":"Liu","year":"2019","journal-title":"J Genet Genomics"},{"key":"2021082017441033300_deab099-B43","doi-asserted-by":"crossref","first-page":"8402","DOI":"10.1073\/pnas.0401832101","article-title":"Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant","volume":"101","author":"Lorenzetti","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2021082017441033300_deab099-B44","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1093\/hmg\/ddy034","article-title":"Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia","volume":"27","author":"Lores","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2021082017441033300_deab099-B45","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1016\/j.ajhg.2019.10.007","article-title":"Mutations in TTC29, encoding an evolutionarily conserved axonemal protein, result in asthenozoospermia and male infertility","volume":"105","author":"Lores","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B46","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.molcel.2005.11.025","article-title":"MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals","volume":"21","author":"Lou","year":"2006","journal-title":"Mol Cell"},{"key":"2021082017441033300_deab099-B47","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmedgenet-2019-106479","article-title":"Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF","volume":"57","author":"Lv","year":"2020","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B48","first-page":"1","article-title":"Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility","volume":"0","author":"Martinez","year":"2020","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B49","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1093\/humrep\/dey264","article-title":"Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella","volume":"33","author":"Martinez","year":"2018","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B50","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"2021082017441033300_deab099-B51","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1006\/dbio.2002.0728","article-title":"Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility","volume":"248","author":"Miki","year":"2002","journal-title":"Dev Biol"},{"key":"2021082017441033300_deab099-B52","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1016\/j.fertnstert.2010.11.027","article-title":"Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment","volume":"95","author":"Moretti","year":"2011","journal-title":"Fertil Steril"},{"key":"2021082017441033300_deab099-B53","doi-asserted-by":"crossref","first-page":"e838","DOI":"10.1002\/mgg3.838","article-title":"Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients","volume":"7","author":"Morimoto","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"2021082017441033300_deab099-B54","doi-asserted-by":"crossref","first-page":"e2364","DOI":"10.1212\/WNL.0000000000007505","article-title":"Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities","volume":"92","author":"Morimoto","year":"2019","journal-title":"Neurology"},{"key":"2021082017441033300_deab099-B55","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1093\/hmg\/10.11.1117","article-title":"Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency","volume":"10","author":"Neesen","year":"2001","journal-title":"Hum Mol Genet"},{"key":"2021082017441033300_deab099-B56","doi-asserted-by":"crossref","first-page":"e46449","DOI":"10.15252\/embr.201846449","article-title":"The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban","volume":"20","author":"Niemeyer","year":"2019","journal-title":"EMBO Rep"},{"key":"2021082017441033300_deab099-B57","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1093\/humrep\/dez022","article-title":"A systematic review and standardized clinical validity assessment of male infertility genes","volume":"34","author":"Oud","year":"2019","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B58","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1042\/BJ20101443","article-title":"The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes","volume":"433","author":"Panayiotou","year":"2011","journal-title":"Biochem J"},{"key":"2021082017441033300_deab099-B59","doi-asserted-by":"crossref","first-page":"e46451","DOI":"10.15252\/embr.201948133","article-title":"Signal Peptide Peptidase-Like 2c (SPPL2c) impairs vesicular transport and cleavage of SNARE proteins","volume":"20","author":"Papadopoulou","year":"2019","journal-title":"EMBO Rep"},{"key":"2021082017441033300_deab099-B60","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1093\/humupd\/dmaa004","article-title":"Haploid male germ cells \u2013 the Grand Central Station of protein transport","volume":"26","author":"Pleuger","year":"2020","journal-title":"Hum Reprod Update"},{"key":"2021082017441033300_deab099-B61","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1093\/humrep\/17.9.2344","article-title":"A pathology of the sperm centriole responsible for defective sperm aster formation, syngamy and cleavage","volume":"17","author":"Rawe","year":"2002","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B62","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1095\/biolreprod12.5.541","article-title":"Absence of arms in the axoneme of immobile human spermatozoa1","volume":"12","author":"Rebbe","year":"1975","journal-title":"Biol Reprod"},{"key":"2021082017441033300_deab099-B63","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2021082017441033300_deab099-B64","first-page":"860","article-title":"The dyskinetic cilia syndrome; abnormal ciliary motility in association with abnormal ciliary ultrastructure","volume":"80","author":"Rossman","year":"1981","journal-title":"Chest"},{"key":"2021082017441033300_deab099-B65","doi-asserted-by":"crossref","first-page":"28220","DOI":"10.1074\/jbc.M312599200","article-title":"Plasma membrane Ca2+ ATPase 4 is required for sperm motility and male fertility","volume":"279","author":"Schuh","year":"2004","journal-title":"J Biol Chem"},{"key":"2021082017441033300_deab099-B66","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/ahg.12369","article-title":"DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella","volume":"84","author":"Sha","year":"2019","journal-title":"Ann Hum Genet"},{"key":"2021082017441033300_deab099-B67","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1016\/j.fertnstert.2017.04.007","article-title":"DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population","volume":"107","author":"Sha","year":"2017","journal-title":"Fertil Steril"},{"key":"2021082017441033300_deab099-B68","doi-asserted-by":"crossref","first-page":"e13151","DOI":"10.1111\/and.13151","article-title":"Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection","volume":"51","author":"Sha","year":"2019","journal-title":"Andrologia"},{"key":"2021082017441033300_deab099-B69","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.gene.2017.08.033","article-title":"A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)","volume":"633","author":"Sha","year":"2017","journal-title":"Gene"},{"key":"2021082017441033300_deab099-B70","doi-asserted-by":"crossref","first-page":"124","DOI":"10.3390\/cells7090124","article-title":"CFAP70 is a novel axoneme-binding protein that localizes at the base of the outer dynein arm and regulates ciliary motility","volume":"7","author":"Shamoto","year":"2018","journal-title":". Cells"},{"key":"2021082017441033300_deab099-B71","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ng1858","article-title":"Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability","volume":"38","author":"Shaw-Smith","year":"2006","journal-title":"Nat Genet"},{"key":"2021082017441033300_deab099-B72","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/s41467-018-08182-x","article-title":"Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella","volume":"10","author":"Shen","year":"2019","journal-title":"Nat Commun"},{"key":"2021082017441033300_deab099-B73","doi-asserted-by":"crossref","first-page":"3018","DOI":"10.1093\/bioinformatics\/btw359","article-title":"RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data","volume":"32","author":"Stokowy","year":"2016","journal-title":"Bioinformatics"},{"key":"2021082017441033300_deab099-B74","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1093\/molbev\/mss083","article-title":"Evolution of the voltage sensor domain of the voltage-sensitive phosphoinositide phosphatase VSP\/TPTE suggests a role as a proton channel in eutherian mammals","volume":"29","author":"Sutton","year":"2012","journal-title":"Mol Biol Evol"},{"key":"2021082017441033300_deab099-B75","doi-asserted-by":"crossref","first-page":"e1137","DOI":"10.1002\/mgg3.1137","article-title":"Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population","volume":"8","author":"Takeuchi","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"2021082017441033300_deab099-B76","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.ajhg.2017.04.012","article-title":"Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella","volume":"100","author":"Tang","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B77","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s00439-020-02113-x","article-title":"The genetic architecture of morphological abnormalities of the sperm tail","volume":"140","author":"Toure","year":"2021","journal-title":"Hum Genet"},{"key":"2021082017441033300_deab099-B78","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00439-020-02110-0","article-title":"Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD","volume":"139","author":"Tu","year":"2020","journal-title":"Hum Genet"},{"key":"2021082017441033300_deab099-B79","doi-asserted-by":"crossref","first-page":"15864","DOI":"10.1038\/s41598-019-52436-7","article-title":"Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella","volume":"9","author":"Tu","year":"2019","journal-title":"Sci Rep"},{"key":"2021082017441033300_deab099-B80","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1038\/nbt1210-1248","article-title":"Towards a knowledge-based Human Protein Atlas","volume":"28","author":"Uhlen","year":"2010","journal-title":"Nat Biotechnol"},{"key":"2021082017441033300_deab099-B81","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.fertnstert.2010.11.067","article-title":"A comprehensive gene mutation screen in men with asthenozoospermia","volume":"95","author":"Visser","year":"2011","journal-title":"Fertil Steril"},{"key":"2021082017441033300_deab099-B82","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1093\/humrep\/dew083","article-title":"Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection","volume":"31","author":"Wambergue","year":"2016","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B83","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmedgenet-2019-106031","article-title":"Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations","volume":"56","author":"Wang","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B84","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/cge.12857","article-title":"Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese","volume":"91","author":"Wang","year":"2017","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B85","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.ajhg.2019.04.015","article-title":"Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to asthenozoospermia","volume":"105","author":"Whitfield","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B86","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1093\/hmg\/ddq031","article-title":"Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse","volume":"19","author":"Wilson","year":"2010","journal-title":"Hum Mol Genet"},{"key":"2021082017441033300_deab099-B87","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ng.2533","article-title":"The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans","volume":"45","author":"Wirschell","year":"2013","journal-title":"Nat Genet"},{"key":"2021082017441033300_deab099-B88","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.rbmo.2018.12.037","article-title":"Novel CFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF","volume":"38","author":"Wu","year":"2019","journal-title":"Reprod Biomed Online"},{"key":"2021082017441033300_deab099-B89","article-title":"Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility","volume":"803346","author":"Wyrwoll","year":"2019","journal-title":"bioRxiv"},{"key":"2021082017441033300_deab099-B90","first-page":"412","article-title":"Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290","volume":"18","author":"Yzer","year":"2012","journal-title":"Mol Vis"},{"key":"2021082017441033300_deab099-B91","article-title":"A DNAH17 missense variant causes flagella destabilization and asthenozoospermia","volume":"217","author":"Zhang","year":"2019","journal-title":"J Exp Med"},{"key":"2021082017441033300_deab099-B92","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1111\/cge.13644","article-title":"A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella","volume":"96","author":"Zhang","year":"2019","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B93","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1093\/humrep\/dew262","article-title":"Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations","volume":"31","author":"Amiri-Yekta","year":"2016","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B94","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ajhg.2018.07.013","article-title":"Loss of calmodulin- and radial-spoke-associated complex protein CFAP251 leads to immotile spermatozoa lacking mitochondria and infertility in men","volume":"103","author":"Auguste","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B95","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ajhg.2013.11.017","article-title":"Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella","volume":"94","author":"Ben Khelifa","year":"2014","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B96","doi-asserted-by":"crossref","first-page":"2071","DOI":"10.1093\/humrep\/dez166","article-title":"CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report","volume":"34","author":"Beurois","year":"2019","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B97","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1095\/biolreprod.102.013466","article-title":"A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum","volume":"68","author":"Brown","year":"2003","journal-title":"Biol Reprod"},{"key":"2021082017441033300_deab099-B98","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1080\/01913120309930","article-title":"Absence of nexin links as a possible cause of primary ciliary dyskinesia","volume":"27","author":"Carlen","year":"2003","journal-title":"Ultrastruct Pathol"},{"key":"2021082017441033300_deab099-B99","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.ajhg.2018.12.013","article-title":"Bi-allelic mutations in ARMC2 lead to severe astheno-teratozoospermia due to sperm flagellum malformations in humans and mice","volume":"104","author":"Coutton","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B100","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1038\/s41467-017-02792-7","article-title":"Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human","volume":"9","author":"Coutton","year":"2018","journal-title":"Nat Commun"},{"key":"2021082017441033300_deab099-B101","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.ajhg.2018.03.007","article-title":"Absence of CFAP69 causes male infertility due to multiple morphological abnormalities of the flagella in human and mouse","volume":"102","author":"Dong","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B102","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/0140-6736(90)92066-Q","article-title":"Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens","volume":"336","author":"Dumur","year":"1990","journal-title":"Lancet"},{"key":"2021082017441033300_deab099-B103","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.prrv.2009.02.001","article-title":"Ciliary defects and genetics of primary ciliary dyskinesia","volume":"10","author":"Escudier","year":"2009","journal-title":"Paediatr Respir Rev"},{"key":"2021082017441033300_deab099-B104","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1007\/s11255-015-1059-0","article-title":"A systematic review of recent clinical practice guidelines and best practice statements for the evaluation of the infertile male","volume":"47","author":"Esteves","year":"2015","journal-title":"Int Urol Nephrol"},{"key":"2021082017441033300_deab099-B105","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1165\/rcmb.2008-0102OC","article-title":"Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype","volume":"40","author":"Fernandez-Gonzalez","year":"2009","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2021082017441033300_deab099-B106","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1038\/gim.2016.225","article-title":"A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes","volume":"19","author":"Gershoni","year":"2017","journal-title":"Genet Med"},{"key":"2021082017441033300_deab099-B107","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1194\/jlr.M026021","article-title":"A human phospholipid phosphatase activated by a transmembrane control module","volume":"53","author":"Halaszovich","year":"2012","journal-title":"J Lipid Res"},{"key":"2021082017441033300_deab099-B108","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1136\/jmedgenet-2018-105486","article-title":"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella","volume":"56","author":"He","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B109","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.ajhg.2020.07.010","article-title":"Bi-allelic loss-of-function variants in CFAP58 cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice","volume":"107","author":"He","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B110","first-page":"247","article-title":"O'Bryan MK. Programmed cell death 2-like (Pdcd2l) is required for mouse embryonic development","volume":"7","author":"Houston","year":"2020","journal-title":"G3 (Bethesda)"},{"key":"2021082017441033300_deab099-B111","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/mrd.23120","article-title":"ENU-induced mutant allele of Dnah1, ferf1, causes abnormal sperm behavior and fertilization failure in mice","volume":"86","author":"Hu","year":"2019","journal-title":"Mol Reprod Dev"},{"key":"2021082017441033300_deab099-B112","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1101\/gad.2030811","article-title":"MDC1 directs chromosome-wide silencing of the sex chromosomes in male germ cells","volume":"25","author":"Ichijima","year":"2011","journal-title":"Genes Dev"},{"key":"2021082017441033300_deab099-B113","doi-asserted-by":"crossref","first-page":"e1033","DOI":"10.1002\/mgg3.1033","article-title":"Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1\u20134 of DRC1 in Japanese patients with recurrent sinopulmonary infection","volume":"8","author":"Keicho","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"2021082017441033300_deab099-B114","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.ajhg.2018.07.014","article-title":"A homozygous ancestral SVA-insertion-mediated deletion in WDR66 induces multiple morphological abnormalities of the sperm flagellum and male infertility","volume":"103","author":"Kherraf","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B115","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1111\/cge.13604","article-title":"Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations","volume":"96","author":"Kherraf","year":"2019","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B116","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1016\/j.str.2016.06.011","article-title":"The human centriolar protein CEP135 contains a two-stranded coiled-coil domain critical for microtubule binding","volume":"24","author":"Kraatz","year":"2016","journal-title":"Structure"},{"key":"2021082017441033300_deab099-B117","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1038\/nm.2380","article-title":"Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome","volume":"17","author":"Lancaster","year":"2011","journal-title":"Nat Med"},{"key":"2021082017441033300_deab099-B118","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/s10038-018-0520-1","article-title":"Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility","volume":"64","author":"Li","year":"2019","journal-title":"J Hum Genet"},{"key":"2021082017441033300_deab099-B119","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1242\/dev.119834","article-title":"A MEIG1\/PACRG complex in the manchette is essential for building the sperm flagella","volume":"142","author":"Li","year":"2015","journal-title":"Development"},{"key":"2021082017441033300_deab099-B120","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmedgenet-2019-106344","article-title":"Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice","volume":"57","author":"Li","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B121","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1111\/cge.13525","article-title":"DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella","volume":"95","author":"Li","year":"2019","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B122","doi-asserted-by":"crossref","first-page":"e1005821","DOI":"10.1371\/journal.pgen.1005821","article-title":"DNAH6 and its interactions with PCD genes in heterotaxy and primary ciliary dyskinesia","volume":"12","author":"Li","year":"2016","journal-title":"PLoS Genet"},{"key":"2021082017441033300_deab099-B123","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1016\/j.ajhg.2019.10.010","article-title":"Bi-allelic mutations in TTC29 cause male subfertility with asthenoteratospermia in humans and mice","volume":"105","author":"Liu","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B124","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1136\/jmedgenet-2019-106011","article-title":"Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility","volume":"57","author":"Liu","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B125","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.ajhg.2019.02.020","article-title":"Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and mice","volume":"104","author":"Liu","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B126","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1136\/jmedgenet-2018-105952","article-title":"Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)","volume":"56","author":"Liu","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B127","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.jgg.2018.09.006","article-title":"Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia","volume":"46","author":"Liu","year":"2019","journal-title":"J Genet Genomics"},{"key":"2021082017441033300_deab099-B128","doi-asserted-by":"crossref","first-page":"8402","DOI":"10.1073\/pnas.0401832101","article-title":"Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant","volume":"101","author":"Lorenzetti","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2021082017441033300_deab099-B129","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1093\/hmg\/ddy034","article-title":"Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia","volume":"27","author":"Lores","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2021082017441033300_deab099-B130","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1016\/j.ajhg.2019.10.007","article-title":"Mutations in TTC29, encoding an evolutionarily conserved axonemal protein, result in asthenozoospermia and male infertility","volume":"105","author":"Lores","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B131","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.molcel.2005.11.025","article-title":"MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals","volume":"21","author":"Lou","year":"2006","journal-title":"Mol Cell"},{"key":"2021082017441033300_deab099-B132","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmedgenet-2019-106479","article-title":"Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF","volume":"57","author":"Lv","year":"2020","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B133","first-page":"1","article-title":"Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility","volume":"0","author":"Martinez","year":"2020","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B134","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1093\/humrep\/dey264","article-title":"Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella","volume":"33","author":"Martinez","year":"2018","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B135","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1006\/dbio.2002.0728","article-title":"Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility","volume":"248","author":"Miki","year":"2002","journal-title":"Dev Biol"},{"key":"2021082017441033300_deab099-B136","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1016\/j.fertnstert.2010.11.027","article-title":"Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment","volume":"95","author":"Moretti","year":"2011","journal-title":"Fertil Steril"},{"key":"2021082017441033300_deab099-B137","doi-asserted-by":"crossref","first-page":"e838","DOI":"10.1002\/mgg3.838","article-title":"Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients","volume":"7","author":"Morimoto","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"2021082017441033300_deab099-B138","doi-asserted-by":"crossref","first-page":"e2364","DOI":"10.1212\/WNL.0000000000007505","article-title":"Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities","volume":"92","author":"Morimoto","year":"2019","journal-title":"Neurology"},{"key":"2021082017441033300_deab099-B139","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1093\/hmg\/10.11.1117","article-title":"Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency","volume":"10","author":"Neesen","year":"2001","journal-title":"Hum Mol Genet"},{"key":"2021082017441033300_deab099-B140","doi-asserted-by":"crossref","first-page":"e46449","DOI":"10.15252\/embr.201846449","article-title":"The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban","volume":"20","author":"Niemeyer","year":"2019","journal-title":"EMBO Rep"},{"key":"2021082017441033300_deab099-B141","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1042\/BJ20101443","article-title":"The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes","volume":"433","author":"Panayiotou","year":"2011","journal-title":"Biochem J"},{"key":"2021082017441033300_deab099-B142","doi-asserted-by":"crossref","first-page":"e46451","DOI":"10.15252\/embr.201948133","article-title":"Signal Peptide Peptidase-Like 2c (SPPL2c) impairs vesicular transport and cleavage of SNARE proteins","volume":"20","author":"Papadopoulou","year":"2019","journal-title":"EMBO Rep"},{"key":"2021082017441033300_deab099-B143","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1111\/cge.13602","article-title":"Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype","volume":"96","author":"Sha","year":"2019","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B144","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/ahg.12369","article-title":"DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella","volume":"84","author":"Sha","year":"2019","journal-title":"Ann Hum Genet"},{"key":"2021082017441033300_deab099-B145","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1016\/j.fertnstert.2017.04.007","article-title":"DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population","volume":"107","author":"Sha","year":"2017","journal-title":"Fertil Steril"},{"key":"2021082017441033300_deab099-B146","doi-asserted-by":"crossref","first-page":"e13151","DOI":"10.1111\/and.13151","article-title":"Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection","volume":"51","author":"Sha","year":"2019","journal-title":"Andrologia"},{"key":"2021082017441033300_deab099-B147","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.gene.2017.08.033","article-title":"A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)","volume":"633","author":"Sha","year":"2017","journal-title":"Gene"},{"key":"2021082017441033300_deab099-B148","doi-asserted-by":"crossref","first-page":"124","DOI":"10.3390\/cells7090124","article-title":"CFAP70 is a novel axoneme-binding protein that localizes at the base of the outer dynein arm and regulates ciliary motility","volume":"7","author":"Shamoto","year":"2018","journal-title":"Cells"},{"key":"2021082017441033300_deab099-B149","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ng1858","article-title":"Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability","volume":"38","author":"Shaw-Smith","year":"2006","journal-title":"Nat Genet"},{"key":"2021082017441033300_deab099-B150","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/s41467-018-08182-x","article-title":"Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella","volume":"10","author":"Shen","year":"2019","journal-title":"Nat Commun"},{"key":"2021082017441033300_deab099-B151","doi-asserted-by":"crossref","first-page":"3018","DOI":"10.1093\/bioinformatics\/btw359","article-title":"RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data","volume":"32","author":"Stokowy","year":"2016","journal-title":"Bioinformatics"},{"key":"2021082017441033300_deab099-B152","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1093\/molbev\/mss083","article-title":"Evolution of the voltage sensor domain of the voltage-sensitive phosphoinositide phosphatase VSP\/TPTE suggests a role as a proton channel in eutherian mammals","volume":"29","author":"Sutton","year":"2012","journal-title":"Mol Biol Evol"},{"key":"2021082017441033300_deab099-B153","doi-asserted-by":"crossref","first-page":"e1137","DOI":"10.1002\/mgg3.1137","article-title":"Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population","volume":"8","author":"Takeuchi","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"2021082017441033300_deab099-B154","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.ajhg.2017.04.012","article-title":"Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella","volume":"100","author":"Tang","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B155","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s00439-020-02113-x","article-title":"The genetic architecture of morphological abnormalities of the sperm tail","volume":"140","author":"Toure","year":"2020","journal-title":"Hum Genet"},{"key":"2021082017441033300_deab099-B156","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00439-020-02110-0","article-title":"Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD","volume":"139","author":"Tu","year":"2020","journal-title":"Hum Genet"},{"key":"2021082017441033300_deab099-B157","doi-asserted-by":"crossref","first-page":"15864","DOI":"10.1038\/s41598-019-52436-7","article-title":"Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella","volume":"9","author":"Tu","year":"2019","journal-title":"Sci Rep"},{"key":"2021082017441033300_deab099-B158","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1038\/nbt1210-1248","article-title":"Towards a knowledge-based Human Protein Atlas","volume":"28","author":"Uhlen","year":"2010","journal-title":"Nat Biotechnol"},{"key":"2021082017441033300_deab099-B159","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.fertnstert.2010.11.067","article-title":"A comprehensive gene mutation screen in men with asthenozoospermia","volume":"95","author":"Visser","year":"2011","journal-title":"Fertil Steril"},{"key":"2021082017441033300_deab099-B160","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1093\/humrep\/dew083","article-title":"Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection","volume":"31","author":"Wambergue","year":"2016","journal-title":"Hum Reprod"},{"key":"2021082017441033300_deab099-B161","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmedgenet-2019-106031","article-title":"Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations","volume":"56","author":"Wang","year":"2019","journal-title":"J Med Genet"},{"key":"2021082017441033300_deab099-B162","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/cge.12857","article-title":"Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese","volume":"91","author":"Wang","year":"2017","journal-title":"Clin Genet"},{"key":"2021082017441033300_deab099-B163","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.ajhg.2019.04.015","article-title":"Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to asthenozoospermia","volume":"105","author":"Whitfield","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2021082017441033300_deab099-B164","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1093\/hmg\/ddq031","article-title":"Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse","volume":"19","author":"Wilson","year":"2010","journal-title":"Hum Mol Genet"},{"key":"2021082017441033300_deab099-B165","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ng.2533","article-title":"The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans","volume":"45","author":"Wirschell","year":"2013","journal-title":"Nat Genet"},{"key":"2021082017441033300_deab099-B166","author":"World Health Organization. WHO laboratory manual for the examination and processing of human semen;","year":"2010"},{"key":"2021082017441033300_deab099-B167","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.rbmo.2018.12.037","article-title":"Novel CFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF)","volume":"38","author":"Wu","year":"2019","journal-title":"Reprod Biomed Online"},{"key":"2021082017441033300_deab099-B168","article-title":"Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility","volume":"803346","author":"Wyrwoll","year":"2019","journal-title":"bioRxiv"},{"key":"2021082017441033300_deab099-B169","first-page":"412","article-title":"Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290","volume":"18","author":"Yzer","year":"2012","journal-title":"Mol Vis"},{"key":"2021082017441033300_deab099-B170","article-title":"A DNAH17 missense variant causes flagella destabilization and asthenozoospermia","volume":"217","author":"Zhang","year":"2019","journal-title":"J Exp Med"},{"key":"2021082017441033300_deab099-B171","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1111\/cge.13644","article-title":"A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella","volume":"96","author":"Zhang","year":"2019","journal-title":"Clin Genet"}],"container-title":["Human Reproduction"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/humrep\/article-pdf\/36\/9\/2597\/39830540\/deab099.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/humrep\/article-pdf\/36\/9\/2597\/39830540\/deab099.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T14:11:39Z","timestamp":1629468699000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/humrep\/article\/36\/9\/2597\/6292397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,5]]},"references-count":171,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,6,5]]},"published-print":{"date-parts":[[2021,8,18]]}},"URL":"https:\/\/doi.org\/10.1093\/humrep\/deab099","relation":{},"ISSN":["0268-1161","1460-2350"],"issn-type":[{"value":"0268-1161","type":"print"},{"value":"1460-2350","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,9,1]]},"published":{"date-parts":[[2021,6,5]]}}}