{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:38:21Z","timestamp":1786739901723,"version":"build-2736575974"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (\n                      <jats:italic toggle=\"yes\">MBOAT1<\/jats:italic>\n                      ) gene (c.770C&gt;T, p.Thr257Met) was found by whole-exome sequencing (WES). Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in\n                      <jats:italic toggle=\"yes\">MBOAT1<\/jats:italic>\n                      was highly conserved in mammals. Quantitative polymerase chain reaction (Q-PCR) analysis showed that the mRNA level of\n                      <jats:italic toggle=\"yes\">MBOAT1<\/jats:italic>\n                      in the patient was 22.0% lower than that in his father. Furthermore, we screened variants of\n                      <jats:italic toggle=\"yes\">MBOAT1<\/jats:italic>\n                      in a broader population and found an additional homozygous variant of the\n                      <jats:italic toggle=\"yes\">MBOAT1<\/jats:italic>\n                      gene in 123 infertile men. Our data identified homozygous variants of the\n                      <jats:italic toggle=\"yes\">MBOAT1<\/jats:italic>\n                      gene associated with male infertility. This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aja202160","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T09:00:41Z","timestamp":1632560441000},"page":"186-190","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":9,"title":["MBOAT1 homozygous missense variant causes nonobstructive azoospermia"],"prefix":"10.4103","volume":"24","author":[{"given":"Yang-Yang","family":"Wan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lan","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Yun","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Hua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xian-Sheng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20240829","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s12958-015-0032-1","article-title":"A unique view on male infertility around the globe","volume":"13","author":"Agarwal","year":"2015","journal-title":"Reprod Biol Endocrinol"},{"key":"R2-12-20240829","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1111\/cge.12900","article-title":"Single gene defects leading to sperm quantitative anomalies","volume":"91","author":"Mitchell","year":"2017","journal-title":"Clin Genet"},{"key":"R3-12-20240829","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/aja.2011.67","article-title":"Genetic causes of spermatogenic failure","volume":"14","author":"Massart","year":"2012","journal-title":"Asian J Androl"},{"key":"R4-12-20240829","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Proteomics. 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