Non-syndromic hearing impairment: gene linkage and cloning

Int J Pediatr Otorhinolaryngol. 1999 Oct 5:49 Suppl 1:S159-63. doi: 10.1016/s0165-5876(99)00153-6.

Abstract

Non-syndromic hearing impairment (NSHI) affects approximately 1:2000 newborns and is a significant cause of hearing loss in the elderly. Although the phenotype is quite similar, NSHI is extremely heterogeneous, with over 40 genetic loci now known. A number of the relevant genes have been cloned. These advances are impacting clinical practice and revolutionizing our understanding of the biology of hearing.

Publication types

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

MeSH terms

  • Chromosome Mapping*
  • Connexin 26
  • Connexins / genetics
  • Extracellular Matrix Proteins / genetics
  • GPI-Linked Proteins
  • Genetic Linkage*
  • Hearing Disorders / congenital
  • Hearing Disorders / genetics*
  • Humans
  • Infant, Newborn
  • Membrane Glycoproteins / genetics
  • Pedigree
  • Phenotype

Substances

  • Connexins
  • Extracellular Matrix Proteins
  • GPI-Linked Proteins
  • Membrane Glycoproteins
  • TECTA protein, human
  • Connexin 26