{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:41Z","timestamp":1775804801582,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:00:00Z","timestamp":1762905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:00:00Z","timestamp":1762905600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The genetic etiology of non\u2010obstructive azoospermia (NOA) characterized by maturation arrest (MA) remains incompletely understood. A homozygous nonsense variant (c.119G&gt;A, p.W40X) in\n                    <jats:italic>KCTD19<\/jats:italic>\n                    was identified in two unrelated probands with NOA. This variant disrupts the evolutionarily conserved BTB domain and leads to the absence of the KCTD19 protein. Histological analysis revealed a complete absence of post\u2010meiotic germ cells in the probands' testes, with spermatogenesis progressed into late prophase I (at least to the zygotene stage) but failed to complete meiotic division. Our findings demonstrate that bi\u2010allelic loss\u2010of\u2010function variants in the meiotic gene\n                    <jats:italic>KCTD19<\/jats:italic>\n                    cause complete MA. This study highlights an indispensable role of KCTD19 in meiotic prophase I, and expands the genetic spectrum underlying male infertility.\n                  <\/jats:p>","DOI":"10.1111\/cge.70106","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T11:23:05Z","timestamp":1762946585000},"page":"803-808","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a Homozygous Nonsense Variant in\n                    <scp>\n                      <i>KCTD19<\/i>\n                    <\/scp>\n                    Causing Meiotic Arrest and Non\u2010Obstructive Azoospermia in Humans"],"prefix":"10.1111","volume":"109","author":[{"given":"Yuxiang","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai 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of Andrology, Women and Children's Hospital, School of Medicine Xiamen University  Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4936-4871","authenticated-orcid":false,"given":"Zhe","family":"Yu","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The Second Affiliated Hospital of Fujian Medical University  Quanzhou China"},{"name":"Rare Disease Medical Center The Second Affiliated Hospital of Fujian Medical University  Quanzhou 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