{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T08:52:48Z","timestamp":1781599968451,"version":"3.54.5"},"reference-count":52,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T00:00:00Z","timestamp":1781568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T00:00:00Z","timestamp":1781568000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82201772"],"award-info":[{"award-number":["82201772"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Multiple morphological abnormalities of the sperm flagellum (MMAF) is a phenotypically severe but genetically heterogeneous subtype of asthenoteratozoospermia. The genetic etiology of MMAF patients is still largely unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To identify novel genetic factors contributing to MMAF\u2010related male infertility and evaluate the therapeutic efficacy of intracytoplasmic sperm injection in affected patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>A cohort of 124 infertile males with typical MMAF were recruited. Novel pathogenic variants were identified through whole\u2010exome sequencing and Sanger sequencing. Bioinformatics analysis revealed the effects of these variants. Sperm morphology and ultrastructural defects were observed using Papanicolaou staining and transmission electron microscopy. The expression and localization of relevant proteins were analyzed by immunofluorescence. CEP131 interaction proteins were identified via co\u2010immunoprecipitation. The impact of pathogenic variants on fertilization and embryonic development was evaluated by intracytoplasmic sperm injection.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified bi\u2010allelic\n                      <jats:italic>CEP131<\/jats:italic>\n                      mutations in four patients with MMAF for the first time. These mutations are highly deleterious and rare in the human population. These mutations affect the expression of centrosome\u2010related proteins CEP131, CEP290, and PCM1, and lead to centrosomal malformations. CEP131 interacts with CEP290 to regulate the formation of the sperm flagellum. Unfortunately, two patients were treated with ICSI but none of them obtained transferable blastocysts due to embryonic development arrest.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study provides the first evidence that\n                      <jats:italic>CEP131<\/jats:italic>\n                      mutations cause MMAF and male infertility due to impairing sperm flagellar formation by interacting with CEP290. ICSI treatment showed a poor prognosis in our cases due to embryonic development arrest.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/andr.70280","type":"journal-article","created":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T08:07:02Z","timestamp":1781597222000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>CEP131<\/i>\n                    Deficiency Leads to Multiple Morphological Abnormalities of the Sperm Flagellum\u2010Associated Male Infertility via Impaired CEP290 Interaction"],"prefix":"10.1111","author":[{"given":"Xueling","family":"Chen","sequence":"first","affiliation":[{"name":"Sichuan Engineering Research Center for Biomimetic Synthesis of Natural Drugs School of Life Science and Engineering, Southwest Jiaotong University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuyu","family":"Li","sequence":"additional","affiliation":[{"name":"School of\u00a0Medicine, Yunnan University  Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7527-5920","authenticated-orcid":false,"given":"Wensheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China the First People's Hospital of Yunnan Province  Kunming China"},{"name":"KUST\u2010YPFPH Reproductive Medicine Joint Research Center Medical School of Kunming University of Science and Technology  Kunming Yunnan China"},{"name":"Reproductive Medical Center of Yunnan Province the Affiliated Hospital of Kunming University of Science and Technology  Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jindong","family":"Zhao","sequence":"additional","affiliation":[{"name":"School of\u00a0Medicine, Yunnan University  Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoxue","family":"Long","sequence":"additional","affiliation":[{"name":"School of\u00a0Medicine, Yunnan University  Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keke","family":"Chi","sequence":"additional","affiliation":[{"name":"School of\u00a0Medicine, Yunnan University  Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiyang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine the Affiliated Hospital of Yunnan University  Kunming Yunnan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3459-7357","authenticated-orcid":false,"given":"Xiaoli","family":"Wei","sequence":"additional","affiliation":[{"name":"School of\u00a0Medicine, Yunnan University  Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0321-4915","authenticated-orcid":false,"given":"Yanwei","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Department of Obstetrics and Gynecology School of Medicine, Women and Children's Hospital, Xiamen University  Xiamen China"},{"name":"Xiamen Key Laboratory of Reproduction and Genetics Xiamen University  Xiamen China"},{"name":"Fujian Provincial Key Laboratory of Reproductive Health Research School of Medicine, Xiamen University  Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6058-4568","authenticated-orcid":false,"given":"Lianhai","family":"Shan","sequence":"additional","affiliation":[{"name":"Sichuan Engineering Research Center for Biomimetic Synthesis of Natural Drugs School of Life Science and Engineering, Southwest Jiaotong University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,16]]},"reference":[{"issue":"6","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1093\/humupd\/dmx021","article-title":"The Diagnosis of Male Infertility: An Analysis of the Evidence to Support the Development of Global WHO Guidance\u2014Challenges and Future Research Opportunities","volume":"23","author":"Barratt C. L. R.","year":"2017","journal-title":"Human Reproduction Update"},{"issue":"1","key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1093\/humupd\/dmaa034","article-title":"Molecular Genetics of Infertility: Loss\u2010of\u2010Function Mutations in Humans and Corresponding Knockout\/Mutated Mice","volume":"27","author":"Jiao S. Y.","year":"2021","journal-title":"Human Reproduction Update"},{"issue":"1","key":"e_1_2_10_4_1","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 A.","year":"2021","journal-title":"Human Genetics"},{"issue":"3","key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/cge.14652","article-title":"Genetic Underpinnings of Oligoasthenoteratozoospermia","volume":"107","author":"Feng Y.","year":"2025","journal-title":"Clinical Genetics"},{"issue":"1","key":"e_1_2_10_6_1","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 M.","year":"2014","journal-title":"American Journal of Human Genetics"},{"issue":"5","key":"e_1_2_10_7_1","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 Y.","year":"2019","journal-title":"Clinical Genetics"},{"issue":"1","key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.4103\/aja202328","article-title":"Novel Variants in DNAH6 Cause Male Infertility Associated With Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and ICSI Outcomes","volume":"26","author":"Shao Z. M.","year":"2024","journal-title":"Asian Journal of Andrology"},{"issue":"2","key":"e_1_2_10_9_1","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ajhg.2020.06.004","article-title":"Bi\u2010Allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility","volume":"107","author":"Liu C.","year":"2020","journal-title":"American Journal of Human Genetics"},{"issue":"10","key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"2485","DOI":"10.1007\/s10815-023-02897-7","article-title":"Novel Mutations in DNAH17 Cause Sperm Flagellum Defects and Their Influence on ICSI Outcome","volume":"40","author":"Song B.","year":"2023","journal-title":"Journal of Assisted Reproduction and Genetics"},{"issue":"4","key":"e_1_2_10_11_1","doi-asserted-by":"crossref","first-page":"516","DOI":"10.4103\/aja2024116","article-title":"Novel Bi\u2010Allelic Variants in DNAH10 Lead to Multiple Morphological Abnormalities of Sperm Flagella and Male Infertility","volume":"27","author":"Shoaib M.","year":"2025","journal-title":"Asian Journal of Andrology"},{"issue":"6","key":"e_1_2_10_12_1","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 S.","year":"2017","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"e_1_2_10_13_1","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/cge.13898","article-title":"Biallelic Mutations of CFAP58 are Associated With Multiple Morphological Abnormalities of the Sperm Flagella","volume":"99","author":"Sha Y.","year":"2021","journal-title":"Clinical Genetics"},{"issue":"2","key":"e_1_2_10_14_1","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 W.","year":"2020","journal-title":"Journal of Medical Genetics"},{"issue":"4","key":"e_1_2_10_15_1","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 F. 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A Case Report","volume":"34","author":"Beurois J.","year":"2019","journal-title":"Human Reproduction"},{"issue":"11","key":"e_1_2_10_17_1","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/s10038-020-0790-2","article-title":"Biallelic Mutations of CFAP74 May Cause Human Primary Ciliary Dyskinesia and MMAF Phenotype","volume":"65","author":"Sha Y.","year":"2020","journal-title":"Journal of Human Genetics"},{"issue":"10","key":"e_1_2_10_18_1","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1136\/jmedgenet-2019-106775","article-title":"Biallelic Variants in MAATS1 Encoding CFAP91, a Calmodulin\u2010Associated and Spoke\u2010Associated Complex Protein, Cause Severe Astheno\u2010Teratozoospermia and Male Infertility","volume":"57","author":"Martinez G.","year":"2020","journal-title":"Journal of Medical Genetics"},{"issue":"1","key":"e_1_2_10_19_1","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 W.","year":"2019","journal-title":"Journal of Human Genetics"},{"issue":"2","key":"e_1_2_10_20_1","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/j.1939-4640.2001.tb02184.x","article-title":"Molecular Genetic Analysis of Two Human Sperm Fibrous Sheath Proteins, AKAP4 and AKAP3, in Men With Dysplasia of the Fibrous Sheath","volume":"22","author":"Turner R. 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W.","year":"2017","journal-title":"Gene"},{"issue":"14","key":"e_1_2_10_30_1","first-page":"3204","article-title":"Germline Deletion of Cetn1 Causes Infertility in Male Mice","volume":"126","author":"Avasthi P.","year":"2013","journal-title":"Journal of Cell Science"},{"issue":"40","key":"e_1_2_10_31_1","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abn0968","article-title":"Loss\u2010of\u2010Function Mutations in CEP78 Cause Male Infertility in Humans and Mice","volume":"8","author":"Zhang X.","year":"2022","journal-title":"Science Advances"},{"issue":"1","key":"e_1_2_10_32_1","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1038\/s41467-022-29109-7","article-title":"CEP128 is Involved in Spermatogenesis in Humans and Mice","volume":"13","author":"Zhang X.","year":"2022","journal-title":"Nature Communications"},{"issue":"2","key":"e_1_2_10_33_1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/cge.13662","article-title":"Loss\u2010of\u2010Function Mutations in Centrosomal Protein 112 is Associated With Human Acephalic Spermatozoa Phenotype","volume":"97","author":"Sha Y.","year":"2020","journal-title":"Clinical Genetics"},{"issue":"1","key":"e_1_2_10_34_1","doi-asserted-by":"crossref","first-page":"8465","DOI":"10.1038\/s41467-024-52705-8","article-title":"CEP112 Coordinates Translational Regulation of Essential Fertility Genes During Spermiogenesis Through Phase Separation in Humans and Mice","volume":"15","author":"Zhang X.","year":"2024","journal-title":"Nature Communications"},{"issue":"1","key":"e_1_2_10_35_1","doi-asserted-by":"crossref","first-page":"2216","DOI":"10.1038\/s41467-024-46454-x","article-title":"Molecular Basis Promoting Centriole Triplet Microtubule Assembly","volume":"15","author":"Takeda Y.","year":"2024","journal-title":"Nature Communications"},{"issue":"7","key":"e_1_2_10_36_1","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 M.","year":"2020","journal-title":"Journal of Medical Genetics"},{"issue":"3","key":"e_1_2_10_37_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.3002330","article-title":"Cep131\u2010Cep162 and Cby\u2010Fam92 Complexes Cooperatively Maintain Cep290 at the Basal Body and Contribute to Ciliogenesis Initiation","volume":"22","author":"Wu Z.","year":"2024","journal-title":"PLoS Biology"},{"issue":"8","key":"e_1_2_10_38_1","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/s41419-019-1778-8","article-title":"Cep131 Overexpression Promotes Centrosome Amplification and Colon Cancer Progression by Regulating Plk4 Stability","volume":"10","author":"Kim D. H.","year":"2019","journal-title":"Cell Death & Disease"},{"key":"e_1_2_10_39_1","doi-asserted-by":"crossref","DOI":"10.1155\/2020\/2752417","article-title":"CEP131 Abrogates CHK1 Inhibitor\u2010Induced Replication Defects and is Associated With Unfavorable Outcome in Neuroblastoma","volume":"2020","author":"Ando K.","year":"2020","journal-title":"Journal of Oncology"},{"issue":"20","key":"e_1_2_10_40_1","first-page":"4770","article-title":"The Centriolar Satellite Protein Cep131 Is Important for Genome Stability","volume":"125","author":"Staples C. J.","year":"2012","journal-title":"Journal of Cell Science"},{"key":"e_1_2_10_41_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.biocel.2017.07.001","article-title":"CEP131 Indicates Poor Prognosis and Promotes Cell Proliferation and Migration in Hepatocellular Carcinoma","volume":"90","author":"Liu X. 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