Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.

Abstract:

:Epidermolytic hyperkeratosis (EHK) is a hereditary skin disorder typified by blistering due to cytolysis. One in 100,000 individuals is affected by this autosomal-dominant disease. The onset of the disease phenotype is typically at birth. Histological and ultrastructural examination of the epidermis shows a thickened stratum corneum and tonofilament clumping around the nucleus of suprabasal keratinocytes. Linkage studies localized the disease genes on chromosomes 12q and 17q which contain the type II and type I keratin gene clusters. Recently, several point mutations in the genes encoding the suprabasal keratins, K1 and K10, have been reported in EHK patients. We have investigated a large kindred affected by EHK and identified a new point mutation in the 2B region of keratin 1 (I107T), resulting from a T to C transition in codon 478.

journal_name

Exp Dermatol

journal_title

Experimental dermatology

authors

Arin MJ,Longley MA,Epstein EH Jr,Rothnagel JA,Roop DR

doi

10.1034/j.1600-0625.2000.009001016.x

subject

Has Abstract

pub_date

2000-02-01 00:00:00

pages

16-9

issue

1

eissn

0906-6705

issn

1600-0625

journal_volume

9

pub_type

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