{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T16:45:44Z","timestamp":1791650744139,"version":"4.3.4"},"reference-count":32,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T00:00:00Z","timestamp":1639526400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013103","name":"Shanghai General Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013103","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016692","name":"Key Research and Development Program of Ningxia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016692","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for the majority of NOA remain unknown. FANCM is a member of Fanconi Anemia (FA) core complex, whose defects are associated with cell hypersensitivity to DNA interstrand crosslink (ICL)-inducing agents. It was reported that variants in\n                    <jats:italic>FANCM<\/jats:italic>\n                    (MIM: 609644) might cause azoospermia or oligospermia. However, there is still a lack of evidence to explain the association between different\n                    <jats:italic>FANCM<\/jats:italic>\n                    variants and male infertility phenotypes. Herein, we identified compound heterozygous variants in\n                    <jats:italic>FANCM<\/jats:italic>\n                    in two NOA-affected brothers (c. 1778delG:p. R593Qfs*76 and c. 1663G &amp;gt; T:p. V555F), and a homozygous variant in\n                    <jats:italic>FANCM<\/jats:italic>\n                    (c. 1972C &amp;gt; T:p. R658X) in a sporadic case with NOA, respectively. H&amp;amp;E staining and immunohistochemistry showed Sertoli cell-only Syndrome (SCOS) in the three patients with NOA. Collectively, our study expands the knowledge of variants in\n                    <jats:italic>FANCM<\/jats:italic>\n                    , and provides a new insight to understand the genetic etiology of NOA.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2021.799886","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T02:05:38Z","timestamp":1639533938000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":21,"title":["Novel Bi-Allelic Variants of FANCM Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia"],"prefix":"10.3389","volume":"12","author":[{"given":"Yuxiang","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nachuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Jing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyong","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangyu","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruhui","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huixing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhua","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erlei","family":"Zhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningjing","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haowei","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuchuan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chencheng","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,12,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/s0140-6736(20)32667-2","article-title":"Male Infertility","volume":"397","author":"Agarwal","year":"2021","journal-title":"The Lancet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"3484","DOI":"10.1093\/hmg\/ddp297","article-title":"Fancm-deficient Mice Reveal Unique Features of Fanconi Anemia Complementation Group M","volume":"18","author":"Bakker","year":"2009","journal-title":"Hum. 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