Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele

Forge, 2003, Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals, J Comp Neurol, 467, 207, 10.1002/cne.10916 Forge, 2003, The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30, Cell Commun Adhes, 10, 341, 10.1080/cac.10.4-6.341.346 Ahmad, 2003, Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice, Biochem Biophys Res Commun, 307, 362, 10.1016/S0006-291X(03)01166-5 Kikuchi, 2000, Gap junction systems in the mammalian cochlea, Brain Res Rev, 32, 163, 10.1016/S0165-0173(99)00076-4 Wangemann, 2002, K+ cycling and the endocochlear potential, Hear Res, 165, 1, 10.1016/S0378-5955(02)00279-4 Grifa, 1999, Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus, Nat Genet, 23, 16, 10.1038/12612 Lerer, 2001, A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews, Hum Mutat, 18, 460, 10.1002/humu.1222 del Castillo, 2002, A deletion involving the connexin 30 gene in nonsyndromic hearing impairment, N Engl J Med, 346, 243, 10.1056/NEJMoa012052 Pallares-Ruiz, 2002, A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?, Eur J Hum Genet, 10, 72, 10.1038/sj.ejhg.5200762 del Castillo, 2005, A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment, J Med Genet, 42, 588, 10.1136/jmg.2004.028324 del Castillo, 2003, Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study, Am J Hum Genet, 73, 1452, 10.1086/380205 Common, 2005, Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830), Clin Exp Dermatol, 30, 688, 10.1111/j.1365-2230.2005.01878.x Wilcox, 2000, A simple PCR test to detect the common 35delG mutation in the connexin 26 gene, Mol Diagn, 5, 75, 10.2165/00066982-200005010-00015 Dean, 2006, On a chromosome far, far away: LCRs and gene expression, Trends Genet, 22, 38, 10.1016/j.tig.2005.11.001 Snoeckx, 2005, GJB2 mutations and degree of hearing loss: a multicenter study, Am J Hum Genet, 77, 945, 10.1086/497996 Tu, 1998, Mapping and characterization of the basal promoter of the human connexin26 gene, Biochim Biophys Acta, 1443, 169, 10.1016/S0167-4781(98)00212-7 Kiang, 1997, Upstream genomic sequence of the human connexin26 gene, Gene, 199, 165, 10.1016/S0378-1119(97)00365-X Essenfelder, 2005, Gene structure and promoter analysis of the human GJB6 gene encoding connexin30, Gene, 350, 33, 10.1016/j.gene.2004.12.048