The genetic bases for syndromic and nonsyndromic deafness among Jews.
There are hundreds of different mutated genes associated with hearing loss. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in some Jewish populations is caused by a small number of founder mutations. This review is focused on genetic disorders such as nonsyndromic deafness, Usher syndrome and Alport syndrome, in which hearing loss is a major part of the phenotype and in which the underlying prevalent founder mutations have been recently identified in different Jewish populations. These and other examples of common mutations within a distinct population allow for sensitive and specific use of genetic testing for carrier screening and diagnosis, and are an impetus for development of therapeutic strategies.
Ben-Yosef
Tamar
T
Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
Friedman
Thomas B
TB
D002874:Chromosome Mapping; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics / Q000378:metabolism; D003638:Deafness / Q000235:genetics* / Q000378:metabolism; D004398:Dyneins; D006801:Humans; D007585:Jews / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics / Q000378:metabolism; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics / Q000378:metabolism; D009394:Nephritis, Hereditary / Q000235:genetics / Q000378:metabolism
D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D000072259:Connexin 26; D018995:Myosin Heavy Chains; D009218:Myosins; D004398:Dyneins