Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2812372 | The American Journal of Human Genetics | 2006 | 6 Pages |
Abstract
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.
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Authors
Ellen Wilch, Mei Zhu, Kirk B. Burkhart, Martha Regier, Jill L. Elfenbein, Rachel A. Fisher, Karen H. Friderici,