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• W2023582655 abstract "Genetics of hearing loss: focus on DFNA2 Laura M Dominguez, Kelley M DodsonDepartment of Otolaryngology, Head and Neck Surgery, Virginia Commonwealth University, Richmond, VAAbstract: The purpose of this review is to assess the current literature on deafness nonsyndromic autosomal dominant 2 (DFNA2) hearing loss and the mutations linked to this disorder. Hearing impairment, particularly nonsyndromic hearing loss, affects multiple families across the world. After the identification of the DFNA2 locus on chromosome 1p34, multiple pathogenic mutations in two genes (GJB3 and KCNQ4) have been reported. The overwhelming majority of pathogenic mutations linked to this form of nonsyndromic hearing loss have been identified in the KCNQ4 gene encoding a voltage-gated potassium channel. It is believed that KCNQ4 channels are present in outer hair cells and possibly inner hair cells and the central auditory pathway. This form of hearing loss is both phenotypically and genetically heterogeneous and there are still DFNA2 pedigrees that have not been associated with changes in either GJB3 or KCNQ4, suggesting that a possible third gene exists at this locus. Further studies of the DFNA2 locus will lead to a better understanding of progressive hearing loss and provide a better means of early detection and treatment.Keywords: deafness nonsyndromic autosomal dominant 2, nonsyndromic deafness, genetic hearing loss, GJB3, KCNQ4" @default.
• W2023582655 created "2016-06-24" @default.
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• W2023582655 date "2012-10-01" @default.
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• W2023582655 title "Genetics of hearing loss: focus on DFNA2" @default.
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• W2023582655 doi "https://doi.org/10.2147/tacg.s35525" @default.
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