High incidence of deafness from three frequent connexin 26 mutations in an isolated community.
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.
Zlotogora
Joël
J
Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel. joelz@cc.huji.ac.il
Carasquillo
Minerva
M
Barges
Saleh
S
Shalev
Stavit A
SA
Hujerat
Yasir
Y
Chakravarti
Aravinda
A
D019943:Amino Acid Substitution; D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D017354:Point Mutation; D017384:Sequence Deletion
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26