Advances in genetic diagnostics for hereditary hearing loss

Natali Idan; Zippora Brownstein; Shaked Shivatzki; Karen B. Avraham

doi:10.1515/jbcpp-2013-0063

Advances in genetic diagnostics for hereditary hearing loss

Natali Idan, Zippora Brownstein, Shaked Shivatzki, Karen B. Avraham

Human Molecular Genetics Biochemistry

Research output: Contribution to journal › Review article › peer-review

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 hearingimpaired population.

Original language	English
Pages (from-to)	165-170
Number of pages	6
Journal	Journal of Basic and Clinical Physiology and Pharmacology
Volume	24
Issue number	3
DOIs	https://doi.org/10.1515/jbcpp-2013-0063
State	Published - Sep 2013

Keywords

Deafness
Exome sequencing
Massively parallel sequencing
Mutations
Targeted capture

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KW - Targeted capture

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Advances in genetic diagnostics for hereditary hearing loss

Abstract

Keywords

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