title: Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).
abstract: A whole array of cutaneous syndromes is associated with distinct dominant mutations in GJB2 encoding the gap junction protein connexin 26 (C x 26), including Vohwinkel's syndrome and keratitis-ichthyosis-deafness syndrome. In contrast, recessive GJB2 mutations occur in a large proportion of individuals with hearing loss but no obvious dermatological phenotype. Recently, a large deletion of approximately 342 kb, encompassing the coding region of GJB6 encoding C x 30, but not affecting GJB2, was shown to be associated with hearing loss. From analysis of patient skin, we provide immunohistochemical and bioinformatic data to show that the expression of C x 26 is affected by del(GJB6-D13S1830) in a cell-type-specific manner within the sweat gland. This putative regulatory element of C x 26 expression may be a key factor related to the severe or profound deafness associated with del(GJB6-D13S1830).
authors.affiliation: Center for Cutaneous Research, institutew of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, UK.
authors.forename: J E A
authors.initials: JE
authors.lastname: Common
authors.forename: M
authors.initials: M
authors.lastname: Bitner-Glindzicz
authors.forename: E A
authors.initials: EA
authors.lastname: O'Toole
authors.forename: M R
authors.initials: MR
authors.lastname: Barnes
authors.forename: L
authors.initials: L
authors.lastname: Jenkins
authors.forename: A
authors.initials: A
authors.lastname: Forge
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D002872:Chromosome Deletion; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000378:metabolism; D017629:Gap Junctions / Q000235:genetics*; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D017422:Sequence Analysis, DNA; D013545:Sweat Glands / Q000378:metabolism*
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26