Article
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
American journal of human genetics - 1 Jul 2006
Wilch Ellen, Zhu Mei, Burkhart Kirk B, Regier Martha, Elfenbein Jill L, Fisher Rachel A, Friderici Karen H
Abstract excerpt
In a large kindred of German descent, we found a novel allele that segregates with deafness when present in trans with the 35delG allele of GJB2. Qualitative polymerase chain reaction-based allele-specific expression assays showed that expression of both GJB2 and GJB6 from the novel allele is dramatically reduced. This is the first evidence of a deafness-associated regulatory mutation of GJB2 and of potential...
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