Article
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.
American journal of medical genetics. Part A - 15 Jul 2007
Makishima Tomoko, Madeo Anne C, Brewer Carmen C, Zalewski Christopher K, Butman John A, Sachdev Vandana, Arai Andrew E, Holbrook Brenda M, Rosing Douglas R, Griffith Andrew J
Abstract excerpt
Dominant, truncating mutations of eyes absent 4 (EYA4) on chromosome 6q23 can cause either nonsyndromic hearing loss DFNA10 or hearing loss with dilated cardiomyopathy (DCM). It has been proposed that truncations of the C-terminal Eya domain cause DFNA10 whereas upstream truncations of the N-terminal variable region cause hearing loss with DCM. Here we report an extended family co-segregating autosomal dominant,...
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