[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]

Ned Tijdschr Geneeskd. 2003 Nov 1;147(44):2170-2.
[Article in Dutch]

Abstract

DFNA6/-14 is a nonsyndromic, autosomal dominant form of hearing impairment that is characterised by low-frequency sensorineural hearing loss, which in some cases is progressive. It is the only known form of dominantly inherited low-frequency hearing impairment in the Netherlands. It is caused by heterozygous non-inactivating mutations in the WFSI gene, which are also present in the Wolfram or DIDMOAD syndrome.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Audiometry
  • Disease Progression
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Multigene Family
  • Mutation*
  • Pedigree

Substances

  • Membrane Proteins
  • wolframin protein