Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4

Ann Hum Genet. 2007 Mar;71(Pt 2):271-5. doi: 10.1111/j.1469-1809.2006.00337.x. Epub 2006 Dec 12.

Abstract

Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3-q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63-causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics*
  • Consanguinity
  • Female
  • Genes, Recessive
  • Haplotypes
  • Hearing Loss / genetics*
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Tunisia