High Incidence of Deafness from Three Frequent Connexin 26 Mutations in an Isolated Community
- 1 March 2006
- journal article
- research article
- Published by Mary Ann Liebert Inc in Genetic Testing
- Vol. 10 (1) , 40-43
- https://doi.org/10.1089/gte.2006.10.40
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.Keywords
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