[A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter]

HNO. 2009 Apr;57(4):371-6. doi: 10.1007/s00106-008-1832-9.
[Article in German]

Abstract

By investigation of a German family pedigree with non-syndromic hearing impairment of early onset and autosomal-dominant mode of inheritance, linkage to known DFNA loci was excluded, and the existence of a new locus (DFNA33) was revealed. In a subsequent genomic scan the phenotype was mapped to a 6 cM interval on chromosome 13q34-qter. A maximum two-point lod score of 2.96 was obtained for the marker D13S285 with a maximum lod score in the multipoint analysis of 3.28 at 124.56 cM.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Aged
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 13 / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics
  • Hearing Loss / congenital*
  • Hearing Loss / genetics*
  • Humans
  • Male
  • Pedigree
  • Quantitative Trait Loci / genetics*