DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24

Am J Hum Genet. 2001 Jan;68(1):254-60. doi: 10.1086/316925. Epub 2000 Dec 11.


Using linkage analysis, we identified a novel dominant locus, DFNA25, for delayed-onset, progressive, high-frequency, nonsyndromic sensorineural hearing loss in a large, multigenerational United States family of Czech descent. On the basis of recombinations in affected individuals, we determined that DFNA25 is located in a 20-cM region of chromosome 12q21-24 between D12S327 (centromeric) and D12S84 (telomeric), with a maximum two-point LOD score of 6.82, at recombination fraction.041, for D12S1030. Candidate genes in this region include ATP2A2, ATP2B1, UBE3B, and VR-OAC. DFNA25 may be the human ortholog of bronx waltzer (bv).

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12 / genetics*
  • Czechoslovakia / ethnology
  • Female
  • Gene Frequency / genetics
  • Genes, Dominant / genetics*
  • Haplotypes / genetics
  • Hearing Loss, Sensorineural / epidemiology
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Lod Score
  • Lymphocytes
  • Male
  • Models, Genetic
  • Pedigree
  • Penetrance
  • Presbycusis / genetics
  • Syndrome
  • United States