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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Usher's syndrome is inherited in an autosomal recessive manner.

There are at least seven genes responsible for the various forms of the syndrome.

One of the more common genes is USH1B which is found on chromosome 11q13.5 (1). The gene codes for a defective myosin VIIA protein. Cytoskeletal abnormalities may be important in the pathogenesis of the other forms of Usher's syndrome.

Reference:

  • Weil, D. et al. (1995). Defective myosin VIIA gene responsible for Usher syndrome type 1A. Nature, 374, 60-1.

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