{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:58:47Z","timestamp":1789207127875,"version":"build-2803163510"},"reference-count":44,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T00:00:00Z","timestamp":1632787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Autosomal\u2010recessive nonsyndromic hearing loss (ARNSHL) is a heterogeneous genetic disorder. Mutations in the gap junction protein beta 2 (GJB2) gene, encoding connexin 26, are a significant cause of ARNSHL in different ethnic groups. This study aimed to identify the frequency and type of GJB2\u00a0mutations in the Iranian Azeri population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fifty unrelated families presenting ARNSHL in Ardabil Province, the northwest of Iran, were studied to determine the frequency and type of GJB2 mutations leading to ARNSHL. ARMS\u2010PCR screened all DNA samples to detect c.35delG; p. Gly12Val mutation. In addition, normal samples for c.35delG; p. Gly12Val were analyzed by direct sequencing for other GJB2 mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>Of the fifty families, 13 (26%) showed a GJB2 gene mutation, with c.35delG; p. Gly12Val mutation was the most prevalent one that occurred in eight (61.5%) out of the 13 families. Of the families, two were homozygous for c.358\u2010360delGAC; p. Glu120del mutation, and one was homozygous for c.290dupA; p. Tyr97Ter and c.299\u2013300delAT; p. His100Arg mutations. Also, we detected a novel mutation, c.238C&gt;A; p. Gln80lys, in one of the families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings are comparable to previous studies, indicating c.35d3lG; p. Gly12Val mutation in the GJB2 gene is the most common cause of GJB2\u2010related hearing loss in the Iranian Azeri population. Furthermore, our study highlights the significance of ARNSHL screening programs of live births based on local population data in Iran.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24024","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T12:19:15Z","timestamp":1632831555000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C&gt;A mutation in Iran"],"prefix":"10.1002","volume":"35","author":[{"given":"Ehsan","family":"Abbaspour Rodbaneh","sequence":"first","affiliation":[{"name":"Medical Genetics and Pathology Ardabil University of Medical Sciences Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Panahi","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology Faculty of Advanced Medical Sciences Tabriz University of Medical Sciences Tabriz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bahareh","family":"Rahimi","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology Faculty of Allied Medical Sciences Iran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haleh","family":"Mokabber","sequence":"additional","affiliation":[{"name":"Medical Genetics and Pathology Ardabil University of Medical Sciences Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Farajollahi","sequence":"additional","affiliation":[{"name":"Medical Genetics and Pathology Ardabil University of Medical Sciences Ardabil Iran"},{"name":"Ardabil Welfare Organization Ardabil 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