Advances in genetic diagnostics for hereditary hearing loss

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

Research output: Contribution to journalReview articlepeer-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 languageEnglish
Pages (from-to)165-170
Number of pages6
JournalJournal of Basic and Clinical Physiology and Pharmacology
Volume24
Issue number3
DOIs
StatePublished - Sep 2013

Keywords

  • Deafness
  • Exome sequencing
  • Massively parallel sequencing
  • Mutations
  • Targeted capture

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