{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:55:25Z","timestamp":1753890925026,"version":"3.41.2"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T00:00:00Z","timestamp":1733270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>The <jats:italic>MARVELD2<\/jats:italic> gene is located on chromosome 5q13.2 and is associated with autosomal recessive nonsyndromic hearing loss (OMIM: # 610572). In this study, we identified and reported a novel nonsense mutation in <jats:italic>MARVELD2<\/jats:italic> c. 663G &amp;gt; A in a Chinese family. We collected peripheral venous blood from 19 members of the affected family and performed whole exome sequencing to analyze the mutation genotype. A single-nucleotide mutation was detected in <jats:italic>MARVELD2<\/jats:italic>. Five individuals in the family carried the <jats:italic>MARVELD2<\/jats:italic> c.663G&amp;gt;A mutation; one of them was homozygous and showed severe congenital deafness and language impairment. The next-generation sequencing results were validated by Sanger sequencing. This study expands the spectrum of <jats:italic>MARVELD2<\/jats:italic> mutations that cause nonsyndromic hearing loss and provides insights into the molecular pathogenesis underlying deafness. This finding has important implications for genetic screening, diagnosis, counseling, and research of deafness-related genes.<\/jats:p>","DOI":"10.3389\/fgene.2024.1507600","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T06:47:44Z","timestamp":1733294864000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family"],"prefix":"10.3389","volume":"15","author":[{"given":"Chuican","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenning","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xijing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiaomiao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weijia","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xialin","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lichun","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,12,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1086\/321277","article-title":"Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F","volume":"69","author":"Ahmed","year":"2001","journal-title":"Am. 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