A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family

Hum Genet. 2003 Mar;112(3):319-20. doi: 10.1007/s00439-002-0880-6. Epub 2002 Dec 13.

Abstract

Non-syndromic hearing loss is the most common sensory disorder in humans; 15%-20% of cases are transmitted as a dominant trait (NSDA) with 40 loci having been mapped and 16 genes having been identified. Here, we report the mapping of a novel NSDA locus, DFNA48, to chromosome 12q13-q14 in a large multigenerational Italian family. A maximum lod score of 3.31 was obtained with marker D12S83, whereas markers D12S347 and D12S1703 defined a region of approximately 18 cM. Positional candidate genes are being screened for deafness-causing mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 12 / genetics*
  • Deafness / genetics*
  • Genes, Dominant / genetics*
  • Humans
  • Italy
  • Lod Score
  • Myosin Heavy Chains
  • Myosin Type II
  • Pedigree

Substances

  • Carrier Proteins
  • Myosin Heavy Chains
  • Myosin Type II
  • MYH7b protein, human