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Article

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

4 Feb 2010

Abstract excerpt

Myosin VIIA mutations have been associated with non-syndromic hearing loss (DFNB2; DFNA11) and Usher syndrome type 1B (USH1B). We report clinical and genetic analyses of a consanguineous Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL). The hearing impairment was mapped to the DFNB2 locus using Affymetrix 50K GeneChips; direct sequencing of the MYO7A gene was completed. The...

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PMID: 20132242
DOI: 10.1111/j.1399-0004.2009.01344.x

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