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 of treatment.
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Abbreviations
- EVA:
-
enlarged vestibular aqueduct
- HL:
-
hearing loss
- NSHL:
-
nonsyndromic hearing loss
- RP:
-
retinitis pigmentosa
- USH:
-
Usher syndrome
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Acknowledgements
We thank all the families who contributed to the studies described in this review, without whom this work could not have taken place. Their participation in the study enabled many more families to learn about their genetic basis of HL. We also thank our collaborators over the years that have been involved in patient ascertainment and gene identification and contributed an essential component to the success of this work. We especially thank Prof. Moshe Frydman, a devoted clinician and researcher, whose guidance and dedication has carried us throughout this project.
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Supported by the Grants NIH R01 DC005641, the European Commission FP6 Integrated Project EUROHEAR LSHG-CT-20054-512063, and the Hirschfield Foundation.
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Brownstein, Z., Avraham, K. Deafness Genes in Israel: Implications for Diagnostics in the Clinic. Pediatr Res 66, 128–134 (2009). https://doi.org/10.1203/PDR.0b013e3181aabd7f
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DOI: https://doi.org/10.1203/PDR.0b013e3181aabd7f
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