{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T16:37:50Z","timestamp":1780591070752,"version":"3.54.1"},"reference-count":31,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Children's Hospital of Philadelphia Institutional Develop Funds"},{"name":"NIH\/NIDCD","award":["R33DC008630"],"award-info":[{"award-number":["R33DC008630"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Hearing impairment affects 1 in 650 newborns, making it the most common congenital sensory impairment. Autosomal recessive nonsyndromic sensorineural hearing impairment (ARNSHI) comprises 80% of familial hearing impairment cases. Mutations in <jats:italic>GJB2<\/jats:italic> account for a significant number of ARNSHI (and up to 50% of documented recessive (e.g., more than 1 affected sibling) hearing impairment in some populations). Mutations in the <jats:italic>GJB2<\/jats:italic> gene are amongst the most common causes of hearing impairment in populations of various ethnic backgrounds. Two mutations of this gene, 35delG and 167delT, account for the majority of reported mutations in Caucasian populations, especially those of Mediterranean and Ashkenazi Jewish background. The 235delC mutation is most prevalent in East Asian populations. Some mutations are of less well\u2010characterized significance. The V37I missense mutation, common in Asian populations, was initially described as a polymorphism and later as a potentially pathogenic mutation. We report here on 15 unrelated individuals with ARNSHI and homozygosity for the V37I <jats:italic>GJB2<\/jats:italic> missense mutation. Nine individuals are of Chinese ancestry, two are of unspecified Asian descent, one is of Japanese descent, one individual is of Vietnamese ancestry, one of Philippine background and one of Italian and Cuban\/Caucasian background. Homozygosity for the V37I <jats:italic>GJB2<\/jats:italic> mutation may be a more common pathogenic missense mutation in Asian populations, resulting in mild to moderate sensorineural hearing impairment. We report a presumed haplotype block specific to East Asian individuals with the V37I mutation encompassing the <jats:italic>GJB2<\/jats:italic> gene that may account for the high prevalence in East Asian populations. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36042","type":"journal-article","created":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T16:03:44Z","timestamp":1374249824000},"page":"2148-2157","source":"Crossref","is-referenced-by-count":17,"title":["Homozygosity for the V37I <i>GJB<\/i><i>2<\/i> mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations"],"prefix":"10.1002","volume":"161","author":[{"given":"Emily","family":"Gallant","sequence":"first","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Francey","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen A.","family":"Tsai","sequence":"additional","affiliation":[{"name":"Genomics and Computational Biology Graduate Group University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micah","family":"Berman","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics The Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaru","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Developmental Pediatrics The Shengjing Hospital, China Medical University Shenyang City P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Fetting","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maninder","family":"Kaur","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics The Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisha","family":"Wilkens","sequence":"additional","affiliation":[{"name":"Division of Human 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Medicine Cambridge Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian D.","family":"Krantz","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics The Perelman School of Medicine, The University of Pennsylvania Philadelphia 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