{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:59:04Z","timestamp":1791928744585,"version":"4.3.4"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,2,11]],"date-time":"2024-02-11T00:00:00Z","timestamp":1707609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171608"],"award-info":[{"award-number":["82171608"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971447"],"award-info":[{"award-number":["81971447"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2022M711119"],"award-info":[{"award-number":["2022M711119"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2702604"],"award-info":[{"award-number":["2022YFC2702604"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Oligoasthenoteratozoospermia (OAT) is a common type of male infertility; however, its genetic causes remain largely unknown. Some of the genetic determinants of OAT are gene defects affecting spermatogenesis. BCORL1 (BCL6 corepressor like 1) is a transcriptional corepressor that exhibits the OAT phenotype in a knockout mouse model. A hemizygous missense variant of\n                    <jats:italic>BCORL1<\/jats:italic>\n                    (c.2615T\u2009&gt;\u2009G:p.Val872Gly) was reported in an infertile male patient with non\u2010obstructive azoospermia (NOA). Nevertheless, the correlation between\n                    <jats:italic>BCORL1<\/jats:italic>\n                    variants and OAT in humans remains unknown. In this study, we used whole\u2010exome sequencing to identify a novel hemizygous nonsense variant of\n                    <jats:italic>BCORL1<\/jats:italic>\n                    (c.1564G\u2009&gt;\u2009T:p.Glu522*) in a male patient with OAT from a Han Chinese family. Functional analysis showed that the variant produced a truncated protein with altered cellular localization and a dysfunctional interaction with SKP1 (S\u2010phase kinase\u2010associated protein 1). Further population screening identified four\n                    <jats:italic>BCORL1<\/jats:italic>\n                    missense variants in subjects with both OAT (1 of 325, 0.31%) and NOA (4 of 355, 1.13%), but no pathogenic\n                    <jats:italic>BCORL1<\/jats:italic>\n                    variants among 362 fertile subjects. In conclusion, our findings indicate that\n                    <jats:italic>BCORL1<\/jats:italic>\n                    is a potential candidate gene in the pathogenesis of OAT and NOA, expanded its disease spectrum and suggested that BCORL1 may play a role in spermatogenesis by interacting with SKP1.\n                  <\/jats:p>","DOI":"10.1111\/cge.14500","type":"journal-article","created":{"date-parts":[[2024,2,11]],"date-time":"2024-02-11T23:49:40Z","timestamp":1707695380000},"page":"27-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A hemizygous loss\u2010of\u2010function variant in\n                    <scp>\n                      <i>BCORL1<\/i>\n                    <\/scp>\n                    is associated with male infertility and oligoasthenoteratozoospermia"],"prefix":"10.1111","volume":"106","author":[{"given":"Chen","family":"Luo","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproduction Engineering, School of Basic Medical Sciences Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zixu","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproduction Engineering, School of Basic Medical Sciences Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanlan","family":"Meng","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproduction Engineering, School of Basic Medical Sciences Central South University  Changsha Hunan China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC\u2010XIANGYA  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Tan","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproduction Engineering, School of Basic Medical Sciences Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbin","family":"He","sequence":"additional","affiliation":[{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC\u2010XIANGYA  Changsha Hunan China"},{"name":"College of Life Sciences Hunan Normal University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5682-8948","authenticated-orcid":false,"given":"Chaofeng","family":"Tu","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproduction Engineering, School of Basic Medical Sciences Central South University  Changsha Hunan China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC\u2010XIANGYA  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Du","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproduction Engineering, School of Basic Medical Sciences Central South University  Changsha Hunan China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC\u2010XIANGYA  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guang\u2010Xiu","family":"Lu","sequence":"additional","affiliation":[{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC\u2010XIANGYA  Changsha Hunan China"},{"name":"College of Life Sciences Hunan Normal University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge","family":"Lin","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproduction Engineering, School of Basic Medical Sciences Central South University  Changsha Hunan China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC\u2010XIANGYA  Changsha Hunan China"},{"name":"College of Life Sciences Hunan Normal University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8359-4654","authenticated-orcid":false,"given":"Yue\u2010Qiu","family":"Tan","sequence":"additional","affiliation":[{"name":"Institute of Reproductive 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