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Medientyp: E-Artikel Titel: Additional clinical manifestations in children with sensorineural hearing loss and biallelicGJB2mutations: Who should be offeredGJB2testing? Beteiligte: Kenna, Margaret A.; Rehm, Heidi L.; Robson, Caroline D.; Frangulov, Anna; McCallum, Jennifer; Yaeger, Dinah; Krantz, Ian D. Erschienen: Wiley, 2007 Erschienen in: American Journal of Medical Genetics Part A Sprache: Englisch DOI: 10.1002/ajmg.a.31706 ISSN: 1552-4825; 1552-4833 Schlagwörter: Genetics (clinical) ; Genetics Entstehung: Anmerkungen: Beschreibung: <jats:title>Abstract</jats:title><jats:p>Sensorineural hearing loss (SNHL), the most common sensory impairment noted at birth, occurs in 3 out of every 1,000 births live births. At least half of congenital SNHL is genetic in origin, with nonsyndromic, or isolated hearing loss, accounting for approximately 70% of the total genetic causes. Syndromic hearing loss (hearing loss associated with other clinical findings) makes up the remaining 30%. Worldwide, mutations in the gap junction beta 2 (<jats:italic>GJB2</jats:italic>) gene, encoding the connexin 26 (Cx26) protein, are responsible for approximately 30% of all cases of childhood SNHL.<jats:italic>GJB2</jats:italic>mutations have been primarily associated with nonsyndromic forms of bilateral SNHL although rare syndromic forms involving dermatologic manifestations have also been reported. In general, unless skin findings are present, children with bilateral SNHL and other structural or developmental abnormalities are not generally thought of as candidates for<jats:italic>GJB2</jats:italic>testing. We evaluated 163 individuals with biallelic<jats:italic>GJB2</jats:italic>mutations and SNHL for the presence of other clinical findings. Twenty‐nine of the 163 (18%) were found to have structural and/or developmental abnormalities in addition to the SNHL and four subjects had diagnoses that were felt to account for their hearing loss prior to being screened for<jats:italic>GJB2</jats:italic>mutations. Although the<jats:italic>GJB2</jats:italic>mutations are likely not responsible for these additional clinical manifestations, this study underscores the importance of considering<jats:italic>GJB2</jats:italic>mutational analysis in individuals with more than just isolated SNHL given the high prevalence of<jats:italic>GJB2</jats:italic>‐related hearing loss. © 2007 Wiley‐Liss, Inc.</jats:p>