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A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad.

Abstract：

:We report the case of a congenitally deaf white male with mild palmoplantar keratoderma, ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome. His major problem was severe, disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne, features comprising the follicular occlusion triad. This unusual phenotype is associated with a novel heterozygous point mutation (C119T) in the gap junction beta2 gene that substitutes a valine for alanine at codon 40 (A40V) in the connexin 26 protein. Through Xenopus oocyte expression studies, this mutant protein was shown to significantly disrupt the function of the specialized gap junctions connecting the cytoplasm of adjacent cells critical for tissue homeostasis. Mutations within the connexin 26 protein are associated with syndromes involving both sensorineural deafness and hyperkeratotic skin disorders. This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad.

journal_name

J Am Acad Dermatol

journal_title

Journal of the American Academy of Dermatology

authors

Montgomery JR,White TW,Martin BL,Turner ML,Holland SM

doi

10.1016/j.jaad.2003.12.042

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

377-82

issue

3

eissn

0190-9622

issn

1097-6787

pii

S0190962204005481

journal_volume

51

pub_type

杂志文章

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