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J Basic Clin Physiol Pharmacol. 2013;24(3):165-70. doi: 10.1515/jbcpp-2013-0063.

Advances in genetic diagnostics for hereditary hearing loss.

Abstract

Hereditary hearing loss affects a significant proportion of the hearing impaired, with genetic mutations estimated to be responsible for its etiology in over 50% of this population. The methods for molecular diagnostics are changing as a result of the transition from linkage analysis to next generation sequencing to identify the genes responsible for hearing loss in affected families. In this review, we summarize the attitudes of the hearing impaired towards genetic testing, the latest techniques for identifying mutations, and provide a comprehensive list of the mutations found in the Israeli Jewish hearing-impaired population.

PMID:
24006325
DOI:
10.1515/jbcpp-2013-0063
[Indexed for MEDLINE]

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