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).

journal_name

Clin Exp Dermatol

authors

Common JE,Bitner-Glindzicz M,O'Toole EA,Barnes MR,Jenkins L,Forge A,Kelsell DP

doi

10.1111/j.1365-2230.2005.01878.x

keywords:

subject

Has Abstract

pub_date

2005-11-01 00:00:00

pages

688-93

issue

6

eissn

0307-6938

issn

1365-2230

pii

CED1878

journal_volume

30

pub_type

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