Advances in genetic diagnostics for hereditary hearing loss

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

doi:10.1515/jbcpp-2013-0063

Article

Advances in genetic diagnostics for hereditary hearing loss

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

Published/Copyright: September 4, 2013

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From the journal Journal of Basic and Clinical Physiology and Pharmacology Volume 24 Issue 3

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.

Keywords: deafness; exome sequencing; massively parallel sequencing; mutations; targeted capture

Corresponding author: Prof. Karen B. Avraham, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel, Phone: +972-3-6406642, Fax: +972-3-6409360

We are indebted to the families and physicians who have contributed to our research over the years, allowing us to determine the genetic basis for hearing impairment in Israel. Research in the Karen Avraham laboratory is supported by the National Institutes of Health (NIDCD) R01DC011835, I-CORE Gene Regulation in Complex Human Disease Center No. 41/11, Israel Science Foundation 1320/11, Human Frontier Science Program RGP0012/2012, and the Hedrich Charitable Trust. We thank Maya Shushan and Nir Ben-Tal for the Consurf analysis.

Conflict of interest statement

Authors’ conflict of interest disclosure: The authors stated that there are no conflicts of interest regarding the publication of this article. Research funding played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

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Received: 2013-5-10

Accepted: 2013-8-8

Published Online: 2013-09-04

Published in Print: 2013-09-01

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Articles in the same Issue

https://doi.org/10.1515/jbcpp-2013-0063

Keywords for this article

deafness; exome sequencing; massively parallel sequencing; mutations; targeted capture