PMID: 7537780May 1, 1995Paper

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne

The Journal of Investigative Dermatology
P EhrlichK Stephens

Abstract

The Weber-Cockayne subtype of epidermolysis bullosa simplex is an inherited skin-fragility disorder characterized by basal keratinocyte lysis and epidermal blistering confined primarily to the hands and feet. The disorder results from a mutation in either the keratin 5 or keratin 14 gene, which encode the peptide components of the obligate heterodimeric keratin intermediate filaments of the basal cell. We have determined that a T-->G substitution mutation in keratin 5, which results in a Ile-->Ser change at codon 161, is common among patients with the Weber-Cockayne disease variant, accounting for six of 13 cases tested. The observed high frequency of this mutation may result from either a mutational hot spot or a founder effect. The potential utility of this common mutation in confirming disease status in some at-risk individual is discussed.

References

Jan 1, 1994·Nature Genetics·J G Compton
Nov 1, 1994·Genes & Development·E L RuggR A Eady
Apr 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·A LetaiE Fuchs
Jun 1, 1993·The Journal of Investigative Dermatology·P M Steinert
Aug 1, 1993·The Journal of Investigative Dermatology·K StephensA Spencer
Aug 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·Y M ChanE Fuchs

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Citations

Dec 1, 1996·Experimental Dermatology·L D Corden, W H McLean
Apr 12, 2003·American Journal of Clinical Dermatology·Frances Smith
May 20, 2004·The British Journal of Dermatology·F ChabriJ Birchall
Apr 28, 1999·The American Journal of Dermatopathology·R Bergman
Mar 1, 2002·The Australasian Journal of Dermatology·Champi PremaratneDédée Murrell
Mar 5, 2004·Development·Takeshi KuritaGerald R Cunha
Jul 1, 1996·Clinics in Dermatology·K M Albers
Nov 6, 1998·The Journal of Investigative Dermatology·F B MüllerB P Korge
Dec 24, 1997·The Journal of Investigative Dermatology·A D IrvineA E Hughes
Feb 1, 1996·The Journal of Investigative Dermatology·Y M ChanE Fuchs

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