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Research Paper Hereditary hearing loss: From human mutation to mechanism

Summary: Research Paper
Hereditary hearing loss: From human mutation to mechanism
Danielle R. Lenz, Karen B. Avraham*
Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
a r t i c l e i n f o
Article history:
Received 28 April 2011
Received in revised form
26 May 2011
Accepted 27 May 2011
Available online xxx
a b s t r a c t
The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of genes
encoding a large variety of proteins. Mutations in these genes have been discovered for patients with
different modes of inheritance and types of hearing loss, ranging from syndromic to non-syndromic and
mild to profound. In many cases, the mechanisms whereby the mutations lead to hearing loss have been
partly elucidated using cell culture systems and mouse and other animal models. The discovery of the
genes has completely changed the practice of genetic counseling in this area, providing potential diag-
nosis in many cases that can be coupled with clinical phenotypes and offer predictive information for
families. In this review we provide three examples of gene discovery in families with hereditary hearing


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


Collections: Biology and Medicine