Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).
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).
Common
J E A
JE
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.
Bitner-Glindzicz
M
M
O'Toole
E A
EA
Barnes
M R
MR
Jenkins
L
L
Forge
A
A
Kelsell
D P
DP
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*
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26