Genetic causes of hearing loss.

In the past year, genes involved in the branchio-oto-renal and Treacher-Collins syndromes were cloned. Myosin 7A, a gene previously implicated in Usher syndrome type 1B, was also found to be mutated in non-syndromic hearing loss. Likewise, linkage studies in Pendred syndrome and Usher syndrome type 1D suggest that allelic mutations can cause syndromic and non-syndromic forms of deafness. In patients with X-linked deafness type 3, a hotspot for deletions was found 900 kb proximal to the causal gene POU3F4. Most importantly, the connexin 26 gene is mutated in approximately 50% of all recessive deafness families, enabling early diagnosis and carrier detection.
AuthorsF P Cremers
JournalCurrent opinion in neurology (Curr Opin Neurol) Vol. 11 Issue 1 Pg. 11-6 (Feb 1998) ISSN: 1350-7540 [Print] UNITED STATES
PMID9484611 (Publication Type: Journal Article, Review)
  • Animals
  • Deafness (etiology, genetics)
  • Humans

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