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