Ontology highlight
ABSTRACT:
SUBMITTER: Hildebrand MS
PROVIDER: S-EPMC2891191 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Hildebrand M S MS Thorne N P NP Bromhead C J CJ Kahrizi K K Webster J A JA Fattahi Z Z Bataejad M M Kimberling W J WJ Stephan D D Najmabadi H H Bahlo M M Smith R J H RJ
Clinical genetics 20100204 6
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 Iranian family (L-1419) was shown to segregate a novel homozygous missense mutation (c.11 ...[more]