{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T01:31:36Z","timestamp":1792114296288,"version":"4.4.0"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T00:00:00Z","timestamp":1570060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare autosomal recessive inherited disorder associated with male infertility. To date, 14 genetic causative genes have been identified in MMAF, which can only explain the genetic causes of ~60% of MMAF cases. Here, we report a man with primary infertility, who had a typical MMAF phenotype. Whole\u2010exome sequencing (WES) was performed on the patient and a homozygous mutation (c. 2675 G&gt;A [p. Trp892*]) was identified in cilia and flagella\u2010associated protein 65 (\n                    <jats:italic>CFAP65<\/jats:italic>\n                    ) gene, which is primarily expressed in the testis. Another loss\u2010of\u2010function mutation of\n                    <jats:italic>CFAP65<\/jats:italic>\n                    has been detected in a MMAF patient, and the orthologue of\n                    <jats:italic>CFAP65<\/jats:italic>\n                    also plays a vital role in sperm motility in chickens. Our experimental observations on human subjects suggested that\n                    <jats:italic>CFAP65<\/jats:italic>\n                    is involved in sperm flagellum structure and assembly and that loss\u2010of\u2010function mutations could lead to male infertility in humans by causing the MMAF phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.13644","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T02:22:47Z","timestamp":1569896567000},"page":"541-548","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["A novel homozygous\n                    <i>CFAP65<\/i>\n                    mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella"],"prefix":"10.1111","volume":"96","author":[{"given":"Xueguang","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guiping","family":"Yuan","sequence":"additional","affiliation":[{"name":"Analytical and Testing Center Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoliang","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases, West China Hospital of Stomatology Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1206-2116","authenticated-orcid":false,"given":"Yihong","family":"Yang","sequence":"additional","affiliation":[{"name":"Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-10-49"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.017"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1104\/pp.010807"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-08182-x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.152413"},{"issue":"1","key":"e_1_2_9_7_1","first-page":"12","article-title":"Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20\u2009years of unchanged routine","volume":"30","author":"Tuttelmann F","year":"2018","journal-title":"Med 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