title: Deafness genes in Israel: implications for diagnostics in the clinic.
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.
authors.affiliation: Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978 Israel. brownste@post.tau.ac.il
authors.forename: Zippora
authors.initials: Z
authors.lastname: Brownstein
authors.forename: Karen B
authors.initials: KB
authors.lastname: Avraham
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000818:Animals; D000070585:Cadherin Related Proteins; D015820:Cadherins / Q000235:genetics; D018797:Cell Cycle Proteins; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003598:Cytoskeletal Proteins; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D025102:Myosin Type III / Q000235:genetics; D000076988:Sulfate Transporters; D050821:Transcription Factor Brn-3C / Q000235:genetics; D052245:Usher Syndromes / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C498835:CDHR15, human; D000070585:Cadherin Related Proteins; D015820:Cadherins; D018797:Cell Cycle Proteins; D017630:Connexins; D003598:Cytoskeletal Proteins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D050821:Transcription Factor Brn-3C; C118970:USH1C protein, human; D000072259:Connexin 26; C491724:MYO3A protein, human; D025102:Myosin Type III; D018995:Myosin Heavy Chains