Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
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ABSTRACT:
SUBMITTER: Wilch E
PROVIDER: S-EPMC1474119 | biostudies-literature | 2006 Jul
REPOSITORIES: biostudies-literature
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Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
Wilch Ellen E Zhu Mei M Burkhart Kirk B KB Regier Martha M Elfenbein Jill L JL Fisher Rachel A RA Friderici Karen H KH
American journal of human genetics 20060517 1
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 coregulation of GJB2 and GJB6. ...[more]
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