Ontology highlight
ABSTRACT:
SUBMITTER: Chen W
PROVIDER: S-EPMC1735925 | biostudies-literature | 2005 Oct
REPOSITORIES: biostudies-literature
Chen W W Kahrizi K K Meyer N C NC Riazalhosseini Y Y Van Camp G G Najmabadi H H Smith R J H RJ
Journal of medical genetics 20050720 10
<h4>Background</h4>Allele variants of COL11A2, encoding collagen type XI alpha2, cause autosomal dominant non-syndromic hearing loss (ARNSHL) at the DFNA13 locus (MIM 601868) and various syndromes that include a deafness phenotype.<h4>Objective</h4>To describe a genome-wide scan carried out on a consanguineous Iranian family segregating ARNSHL.<h4>Results</h4>Genotyping data identified a novel locus for ARNSHL on chromosome 6p21.3, which was designated DFNB53. Homozygosity for the P621T mutation ...[more]