{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T21:18:11Z","timestamp":1793395091571,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:00:00Z","timestamp":1694822400000},"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":["82201834"],"award-info":[{"award-number":["82201834"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003995","name":"Natural Science Foundation of Anhui Province","doi-asserted-by":"publisher","award":["2208085QH233"],"award-info":[{"award-number":["2208085QH233"]}],"id":[{"id":"10.13039\/501100003995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Non\u2010obstructive azoospermia (NOA) is the most severe form of human male infertility, and the genetic causes of NOA with meiotic arrest remain largely unclear. In this study, we identified novel compound heterozygous\n                    <jats:italic>MEIOB<\/jats:italic>\n                    variants (c.814C\u2009&gt;\u2009T: p.R272X and c.976G\u2009&gt;\u2009A: p.A326T) and a previously undescribed homozygous non\u2010canonical splicing variant of\n                    <jats:italic>MEIOB<\/jats:italic>\n                    (c.528\u2009+\u20093A\u2009&gt;\u2009C) in two NOA\u2010affected individuals from two irrelevant Chinese families.\n                    <jats:italic>MEIOB<\/jats:italic>\n                    missense variant (p.A326T) significantly reduced protein abundance and nonsense variant (p.R272X) produced a truncated protein. Both of two variants impaired the MEIOB\u2010SPATA22 interaction. The\n                    <jats:italic>MEIOB<\/jats:italic>\n                    non\u2010canonical splicing variant resulted in whole Exon 6 skipping by minigene assay, which was predicted to produce a frameshift truncated protein (p.S111Rfs*32). Histological and immunostaining analysis indicated that both patients exhibited a similar phenotype as we previously reported in\n                    <jats:italic>Meiob<\/jats:italic>\n                    mutant mice, that is, absence of spermatids in seminiferous tubules and meiotic arrest. Our study identified three novel pathogenic variants of\n                    <jats:italic>MEIOB<\/jats:italic>\n                    in NOA patients, extending the mutation spectrum of the\n                    <jats:italic>MEIOB<\/jats:italic>\n                    and highlighting the contribution of meiotic recombination related genes in human fertility.\n                  <\/jats:p>","DOI":"10.1111\/cge.14426","type":"journal-article","created":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T06:39:10Z","timestamp":1694846350000},"page":"99-105","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel\n                    <scp>\n                      <i>MEIOB<\/i>\n                    <\/scp>\n                    pathogenic variants including a homozygous non\u2010canonical splicing variant, cause meiotic arrest and human non\u2010obstructive azoospermia"],"prefix":"10.1111","volume":"105","author":[{"given":"Xiaoyu","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Key Laboratory of Population Health Across Life Cycle, Anhui Medical University Ministry of Education of the People's Republic of China  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaiqin","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Key Laboratory of Population Health Across Life Cycle, Anhui Medical University Ministry of Education of the People's Republic of China  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiru","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Key Laboratory of Population Health Across Life Cycle, Anhui Medical University Ministry of Education of the People's Republic of China  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0009-3839","authenticated-orcid":false,"given":"Huan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics  Hefei Anhui China"},{"name":"Anhui Provincial Engineering Research Center of Biopreservation and Artificial Organs  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuokuo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics  Hefei Anhui China"},{"name":"Anhui Provincial Engineering Research Center of Biopreservation and Artificial Organs  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9068-9993","authenticated-orcid":false,"given":"Yang","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Key Laboratory of Population Health Across Life Cycle, Anhui Medical University Ministry of Education of the People's Republic of China  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingrong","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Key Laboratory of Population Health Across Life Cycle, Anhui Medical University Ministry of Education of the People's Republic of China  Hefei Anhui China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics  Hefei Anhui China"},{"name":"Anhui Provincial Engineering Research Center of Biopreservation and Artificial Organs  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics  Hefei Anhui China"},{"name":"Anhui Provincial Engineering Research Center of Biopreservation and Artificial Organs  Hefei Anhui 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Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Provincial Human Sperm Bank The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunxia","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University  Hefei Anhui China"},{"name":"Key Laboratory of Population Health Across Life Cycle, Anhui Medical University Ministry of Education of the People's Republic of China  Hefei Anhui 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