High incidence of deafness from three frequent connexin 26 mutations in an isolated community

Joël Zlotogora, Minerva Carasquillo, Saleh Barges, Stavit A. Shalev, Yasir Hujerat, Aravinda Chakravarti

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

In a small village founded by few ancestors, three mutations in GJB2, the gene for connexin 26, are responsible for the high prevalence of deafness. A total of 15% of healthy individuals from a random sample were carriers of either 35Gdel (7.8%), W77R (2.4%), or V37I (4.8%). The three mutations appeared in the village approximately 100-150 years ago. The question of why three distinct mutations of similar age are observed at high frequency within a genetic isolate is discussed.

Original languageEnglish (US)
Pages (from-to)40-43
Number of pages4
JournalGenetic Testing
Volume10
Issue number1
DOIs
StatePublished - Mar 1 2006

ASJC Scopus subject areas

  • Genetics(clinical)

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