HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

Genetic causes of hearing loss.

Abstract
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)
Topics
  • Animals
  • Deafness (etiology, genetics)
  • Humans

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!


Choose Username:
Email:
Password:
Verify Password: