Deafness genes in Israel: Implications for diagnostics in the clinic

Zippora Brownstein, Karen B. Avraham

Research output: Contribution to journalReview articlepeer-review

Abstract

The identification of the molecular basis of deafness in the last decade has made a remarkable impact on genetic counseling and diagnostics for the hearing impaired population. Since the discovery of the most prevalent form of deafness associated with mutations in the GJB2 (connexin 26) gene, many other genes have been found worldwide, with a subset of these, including unique mutations, in Israel. Here, we review the current status of deafness genes in Israel and report one known mutation in a syndromic form of deafness, Usher syndrome, described in the Jewish Israeli population for the first time. In the future, the identification of specific mutations may be relevant for specific types ot treatment.

Original languageEnglish
Pages (from-to)128-134
Number of pages7
JournalPediatric Research
Volume66
Issue number2
DOIs
StatePublished - Aug 2009

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