{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T03:06:36Z","timestamp":1790996796774,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T00:00:00Z","timestamp":1608595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>This study is intended to investigate the candidate pathogenic gene in a patient with primary infertility but without the defect in routine semen parameters from a consanguineous family and explore the potential impacts of mutations on assisted reproductive technology outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) was carried out. A variant in his family found by WES was verified by Sanger sequencing. Intracytoplasmic sperm injection (ICSI) was applied to obtain a successful outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A Cation Channel of Sperm 3(<jats:italic>CATSPER3<\/jats:italic>) homozygous variant (NM_ 178019.3:exon5:c.707T&gt;A, p.L236*) was identified for the first time. The anti\u2010CD46 immunofluorescence analysis revealed the failure of sperm acrosome reaction (AR) caused by the mutation. ICSI treatment was successful.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of a homozygous pathogenic <jats:italic>CATSPER3<\/jats:italic> mutation. This mutation may cause male infertility with the failure of AR but without the defect in routine semen parameters. ICSI was supposed to be the most appropriate therapy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1579","type":"journal-article","created":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T23:33:24Z","timestamp":1608680004000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Patient with <i>CATSPER3<\/i> mutations\u2010related failure of sperm acrosome reaction with successful pregnancy outcome from intracytoplasmic sperm injection (ICSI)"],"prefix":"10.1002","volume":"9","author":[{"given":"Jiaxiong","family":"Wang","sequence":"first","affiliation":[{"name":"Center for Reproduction and Genetics Suzhou Hospital Affiliated to Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Tang","sequence":"additional","affiliation":[{"name":"Suzhou Center Affiliated to State Key Laboratory of Reproductive Medicine Suzhou Hospital Affiliated to Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinyan","family":"Zou","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics Suzhou Hospital Affiliated to Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiyan","family":"Zheng","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics Suzhou Hospital Affiliated to Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics Suzhou Hospital Affiliated to Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3063-244X","authenticated-orcid":false,"given":"Shenmin","family":"Yang","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics Suzhou Hospital Affiliated to Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7191-7156","authenticated-orcid":false,"given":"Jingjing","family":"Xiang","sequence":"additional","affiliation":[{"name":"Suzhou Center Affiliated to State Key Laboratory of Reproductive Medicine Suzhou Hospital Affiliated to Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,22]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"GeneReviews\u00ae","author":"Adam M. 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