DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter

Eur J Hum Genet. 1999 Feb-Mar;7(2):243-6. doi: 10.1038/sj.ejhg.5200269.

Abstract

Autosomal recessive non-syndromal deafness is an extremely heterogeneous condition with at least 19 loci (DFNB1-19) already described. We have used autozygosity mapping to localise a further novel locus, DFNB20, to chromosome 11q25-qter in a consanguineous family originating from Pakistan. A region of homozygosity was observed in affected individuals spanning the interval D11S969-qter.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Connexin 26
  • Connexins
  • Female
  • Genes, Recessive*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Pedigree

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26