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Deafness Genes in Israel: Implications for Diagnostics in the Clinic

Summary: Deafness Genes in Israel: Implications for Diagnostics
in the Clinic
Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978 Israel
ABSTRACT: The identification of the molecular basis of deafness
in the last decade has made a remarkable impact on genetic coun-
seling 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 popu-
lation for the first time. In the future, the identification of specific
mutations may be relevant for specific types of treatment. (Pediatr
Res 66: 128134, 2009)
Hereditary Hearing Loss
Patients with hearing loss (HL) and parents of hearing
impaired children often wish to discover the cause of this most
common sensory characteristic, one in which both medical


Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University


Collections: Biology and Medicine