{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:45:39Z","timestamp":1792075539678,"version":"4.4.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T00:00:00Z","timestamp":1788825600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"vor","delay-in-days":37,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82160319"],"award-info":[{"award-number":["82160319"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Young and Middle-Aged Academic Leaders Planning Commission of Yunnan Province","award":["202105AC160034"],"award-info":[{"award-number":["202105AC160034"]}]},{"name":"Key Project of Yunnan Provincial Clinical Medicine Center for Hematological Diseases","award":["2024YNLCYXZX0263"],"award-info":[{"award-number":["2024YNLCYXZX0263"]}]},{"name":"Basic Research Project-Key Projects of Yunnan Province","award":["202301AS070007"],"award-info":[{"award-number":["202301AS070007"]}]},{"name":"Basic Research Projects of Yunnan Province","award":["202501AY070001-021"],"award-info":[{"award-number":["202501AY070001-021"]}]},{"name":"High-end Medical Talents of Yunnan Provincial Health Commission","award":["L-2024016"],"award-info":[{"award-number":["L-2024016"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"DOI":"10.1186\/s12920-026-02466-8","type":"journal-article","created":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:15:20Z","timestamp":1788869720000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia"],"prefix":"10.1186","volume":"19","author":[{"given":"Congcong","family":"Teng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhua","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaxian","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuancun","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,8]]},"reference":[{"key":"2466_CR1","unstructured":"World Health Organization. Infertility prevalence estimates, 1990\u20132021.Geneva: World Health Organization; 2023."},{"key":"2466_CR2","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1186\/s12958-015-0032-1","volume":"13","author":"A Agarwal","year":"2015","unstructured":"Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015;13:37.","journal-title":"Reprod Biol Endocrinol"},{"issue":"7","key":"2466_CR3","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1016\/S2213-8587(16)30043-2","volume":"5","author":"H Tournaye","year":"2017","unstructured":"Tournaye H, Krausz C, Oates RD. Concepts in diagnosis and therapy for male reproductive impairment. Lancet Diabetes Endocrinol. 2017;5(7):554\u201364.","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"1","key":"2466_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1056\/NEJM197707072970101","volume":"297","author":"R Eliasson","year":"1977","unstructured":"Eliasson R, Mossberg B, Camner P, Afzelius BA. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. 1977;297(1):1\u20136.","journal-title":"N Engl J Med"},{"issue":"5","key":"2466_CR5","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1093\/humupd\/dmr018","volume":"17","author":"C Ortega","year":"2011","unstructured":"Ortega C, Verheyen G, Raick D, Camus M, Devroey P. Absolute asthenozoospermia and ICSI: what are the options? Hum Reprod Update. 2011;17(5):684.","journal-title":"Hum Reprod Update"},{"key":"2466_CR6","doi-asserted-by":"crossref","unstructured":"Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. Am J Hum Genet. 2017;100(6):854\u201364.","DOI":"10.1016\/j.ajhg.2017.04.012"},{"issue":"1","key":"2466_CR7","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1038\/s41467-017-02792-7","volume":"9","author":"C Coutton","year":"2018","unstructured":"Coutton C, Vargas AS, Amiri-Yekta A, Kherraf Z-E, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouz\u00e8ne T, Martinez G, Crouzy S. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nat Commun. 2018;9(1):686.","journal-title":"Nat Commun"},{"issue":"1","key":"2466_CR8","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1093\/humupd\/dmaa034","volume":"27","author":"SY Jiao","year":"2021","unstructured":"Jiao SY, Yang YH, Chen SR. Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout\/mutated mice. Hum Reprod Update. 2021;27(1):154\u201389.","journal-title":"Hum Reprod Update"},{"issue":"1","key":"2466_CR9","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.ajhg.2013.11.017","volume":"94","author":"MB Khelifa","year":"2014","unstructured":"Khelifa MB, Coutton C, Zouari R, Karaouz\u00e8ne T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet. 2014;94(1):95\u2013104.","journal-title":"Am J Hum Genet"},{"key":"2466_CR10","doi-asserted-by":"crossref","unstructured":"Amiri-Yekta A, Coutton C, Kherraf Z-E, Karaouz\u00e8ne T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. Hum Reprod. 2016;31(12):2872\u201380.","DOI":"10.1093\/humrep\/dew262"},{"issue":"6","key":"2466_CR11","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1111\/cge.13644","volume":"96","author":"X Zhang","year":"2019","unstructured":"Zhang X, Shen Y, Wang X, Yuan G, Zhang C, Yang Y. A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella. Clin Genet. 2019;96(6):541\u20138.","journal-title":"Clin Genet"},{"issue":"11","key":"2466_CR12","doi-asserted-by":"publisher","first-page":"jmedgenet","DOI":"10.1136\/jmedgenet-2019-106031","volume":"56","author":"W Wang","year":"2019","unstructured":"Wang W, Tu C, Nie H, Meng L, Tan YQ. Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. J Med Genet. 2019;56(11):jmedgenet\u20132019.","journal-title":"J Med Genet"},{"key":"2466_CR13","doi-asserted-by":"crossref","unstructured":"Gaildrat P, Killian A, Martins A, Tournier I, Fr\u00e9bourg T, Tosi M. Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants. Methods Mol Biol. 2010;653:249\u201357.","DOI":"10.1007\/978-1-60761-759-4_15"},{"issue":"4","key":"2466_CR14","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1002\/mgg3.145","volume":"3","author":"HM van der Klift","year":"2015","unstructured":"van der Klift HM, Jansen AM, van der Steenstraten N, Bik EC, Tops CM, Devilee P, Wijnen JT. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. Mol Genet Genom Med. 2015;3(4):327\u201345.","journal-title":"Mol Genet Genom Med"},{"issue":"11","key":"2466_CR15","doi-asserted-by":"publisher","first-page":"1521","DOI":"10.1002\/humu.23294","volume":"38","author":"ZT Soens","year":"2017","unstructured":"Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease\u2010causing variants among exon\u2010captured variants of uncertain significance. Hum Mutat. 2017;38(11):1521\u201333.","journal-title":"Hum Mutat"},{"issue":"1\u20134","key":"2466_CR16","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1159\/000362448","volume":"77","author":"KL Sund","year":"2014","unstructured":"Sund KL, Rehder CW. Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory. Hum Hered. 2014;77(1\u20134):217\u201324.","journal-title":"Hum Hered"},{"issue":"2","key":"2466_CR17","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.gim.2021.10.004","volume":"24","author":"PR Gonzales","year":"2022","unstructured":"Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance C. Interpretation and reporting of large regions of homozygosity and suspected consanguinity\/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24(2):255\u201361.","journal-title":"Genet Med"},{"key":"2466_CR18","doi-asserted-by":"crossref","unstructured":"Daniel Q, Xiaohui X. DanQ: a hybrid convolutional and recurrent deep neural network for quantifying the function of DNA sequences. Nucleic Acids Res. 2016;44(11):e107.","DOI":"10.1093\/nar\/gkw226"},{"key":"2466_CR19","doi-asserted-by":"crossref","unstructured":"Pallotti F, Lombardo F, Paoli D et al. Comment on Boitrelle. The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis. Life 2021, 11, 1368. 2022, 12(7).","DOI":"10.3390\/life12071044"},{"issue":"12","key":"2466_CR20","doi-asserted-by":"publisher","first-page":"1020","DOI":"10.1093\/qjmed\/hcad205","volume":"116","author":"Y Lu","year":"2023","unstructured":"Lu Y, Ran L, Liu S, Wang J, Li T, Li H, Wang B. The compound heterozygous mutations of CFAP65 cause multiple morphological abnormalities of sperm flagella in infertile men. QJM. 2023;116(12):1020\u20132.","journal-title":"QJM"},{"issue":"2","key":"2466_CR21","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1136\/jmedgenet-2019-106344","volume":"57","author":"W Li","year":"2020","unstructured":"Li W, Wu H, Li F, Tian S, Kherraf ZE, Zhang J, Ni X, Lv M, Liu C, Tan Q, et al. Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. J Med Genet. 2020;57(2):89\u201395.","journal-title":"J Med Genet"},{"issue":"5","key":"2466_CR22","first-page":"405","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E. 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. Genet Med Official J Am Coll Med Genet. 2015;17(5):405\u201324.","journal-title":"Genet Med Official J Am Coll Med Genet"},{"issue":"11","key":"2466_CR23","doi-asserted-by":"publisher","first-page":"1517","DOI":"10.1002\/humu.23626","volume":"39","author":"AN Abou Tayoun","year":"2018","unstructured":"Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A. Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion. Hum Mutat. 2018;39(11):1517\u201324.","journal-title":"Hum Mutat"},{"key":"2466_CR24","doi-asserted-by":"publisher","first-page":"1034951","DOI":"10.3389\/fgene.2022.1034951","volume":"13","author":"J Wang","year":"2022","unstructured":"Wang J, Wang W, Shen L, Zheng A, Meng Q, Li H, Yang S. Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature. Front Genet. 2022;13:1034951.","journal-title":"Front Genet"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-026-02466-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-026-02466-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-026-02466-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:02:52Z","timestamp":1792072972000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-026-02466-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,8]]},"references-count":24,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["2466"],"URL":"https:\/\/doi.org\/10.1186\/s12920-026-02466-8","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,8]]},"assertion":[{"value":"15 July 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 September 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was approved by the Ethics Review Board of the First People\u2019s Hospital of Yunnan Province (KHLL2025-KY279) and was conducted in accordance with the principles of the Declaration of Helsinki. Written informed consent was obtained from the family after all participants were fully informed about the study.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The informed consents for publication was obtained from all participants.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"155"}}