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- W2021856103 abstract "Hearing impairment comprises the most common sensory deficit in man. Overall, genetic etiology accounts for at least 35% of hearing loss across the age spectrum and is responsible for about half of the congenital, prelingual hearing impairment cases. Disruption of gene functions in the inner ear represents virtually the entire range of biological functions found in human cells and organs. In addition to the greater than 400 syndromes associated with hearing loss, nearly 140 non-syndromic deafness loci have been identified and at least 66 genes have been characterized. Most notably, mutations in one gene, GJB2, which encodes connexin 26, account for about 20% of childhood deafness and closer to 50% of autosomal recessive deafness. This chapter reviews major environmental causes of teratogenic and postnatal hearing impairment, selected chromosomal, metabolic and syndromic causes, including the Alport, branchio-oto-renal (BOR), Jervell and Lange-Nielsen, Pendred, Stickler, Usher and Waardenburg syndromes, auditory neuropathy, and the known AR, AD, X-linked and mitochondrial genes involved in non-syndromic SNHL. Evaluation and management of the hearing-impaired individual is addressed. The rapid rate of discovery of deafness genes, coupled with increased understanding of the importance of early intervention in achieving better educational and social outcomes, has led to widespread newborn hearing screening. Molecular discoveries have provided remarkable insight to the unparalleled complexity and heterogeneity of genetic deafness, and may provide a basis for more specific, targeted approaches to therapy." @default.
- W2021856103 created "2016-06-24" @default.
- W2021856103 creator A5010370816 @default.
- W2021856103 creator A5022685569 @default.
- W2021856103 date "2013-01-01" @default.
- W2021856103 modified "2023-09-24" @default.
- W2021856103 title "Hereditary Hearing Impairment" @default.
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