A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3

Hum Genet. 2009 Jan;124(6):669-75. doi: 10.1007/s00439-008-0596-3. Epub 2008 Nov 22.


Autosomal dominant nonsyndromic hearing loss (ADNSHL) accounts for about one-fifth of hereditary hearing loss in humans. In the present study, we have analyzed a three-generation family with 14 of its members manifesting ADNSHL, using a genome-wide linkage mapping approach. We found a novel locus DFNA59 between the D11S929 and D11S480 markers in the chromosome location 11p14.2-q12.3. The highest two-point lod score of 5.72 at recombination fraction = 0 was obtained for D11S4152, D11S4154, D11S1301, D11S905 and D11S1344. The critical genomic region comprising about 37 megabases of DNA is proposed to carry a gene for ADNSHL in the family. About 50 cochlear-expressed genes mapping to the region are strong candidates which we propose to examine to identify the gene responsible for the hearing impairment.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Audiometry, Pure-Tone
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics*
  • Female
  • Genes, Dominant
  • Genetic Markers
  • Hearing Loss, Bilateral / congenital
  • Hearing Loss, Bilateral / genetics
  • Hearing Loss, Bilateral / physiopathology
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Lod Score
  • Male
  • Pedigree


  • Genetic Markers