A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p

Am J Hum Genet. 1997 Oct;61(4):924-7. doi: 10.1086/514892.

Abstract

Nonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. Environmental and hereditary factors play an etiologic role, although the relative contribution of each is unknown. To date, 39 NSHL genes have been localized. Twelve produce autosomal dominant hearing loss, most frequently postlingual in onset and progressive in nature. We have ascertained a large, multigenerational family in which a gene for autosomal dominant NSHL is segregating. Affected individuals experience progressive hearing loss beginning in the 2d-4th decades, eventually making the use of amplification mandatory. A novel locus, DFNA13, was identified on chromosome 6p; the disease gene maps to a 4-cM interval flanked by D6S1663 and D6S1691, with a maximum two-point LOD score of 6.409 at D6S299.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • Europe / ethnology
  • Female
  • Genetic Markers
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • United States

Substances

  • Genetic Markers