Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
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.
Wilch
Ellen
E
Genetics Program, Michigan State University, East Lansing, 48824, USA.
Zhu
Mei
M
Burkhart
Kirk B
KB
Regier
Martha
M
Elfenbein
Jill L
JL
Fisher
Rachel A
RA
Friderici
Karen H
KH
D000483:Alleles; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26