A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3

Am J Med Genet A. 2005 Feb 15;133A(1):18-22. doi: 10.1002/ajmg.a.30508.

Abstract

A consanguineous family with autosomal recessive nonsyndromic hearing impairment (NSHI) was ascertained in Pakistan and displayed significant evidence of linkage to 3q13.31-q22.3. The novel locus (DFNB42) segregating in this kindred, maps to a 21.6 cM region according to a genetic map constructed using data from both the deCode and Marshfield genetic maps. This region of homozygosity is flanked by markers D3S1278 and D3S2453. A maximum multipoint LOD score of 3.72 was obtained at marker D3S4523. DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Audiometry
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 / genetics*
  • Female
  • Genes, Recessive / genetics*
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Hearing Loss / genetics*
  • Hearing Loss / pathology
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree