English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Dobson-Stone, C., Fairclough, R., Dunne, E., Brown, J., Dissanayake, M., Munro, C. S., et al. (2002). Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene. Journal of Investigative Dermatology, 118(2), 338-343.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C46-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C47-B
Genre: Journal Article
Alternative Title : J Invest Dermatol

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Dobson-Stone, Carol, Author
Fairclough, Rebecca, Author
Dunne, Eimear, Author
Brown, Joanna, Author
Dissanayake, Manel, Author
Munro, Colin S., Author
Strachan, Tom, Author
Burge, Susan, Author
Sudbrak, Ralf1, Author              
Monaco, Anthony P., Author
Hovnanian, Alain, Author
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

Content

show
hide
Free keywords: Ca2+ transporting ATPase; familial benign chronic pemphigus; genotypephenotype correlation; recurrent mutation.
 Abstract: Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1, the gene encoding a novel, P-type Ca2+-transport ATPase, were recently found to cause HaileyHailey disease. In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 HaileyHailey disease families and three sporadic cases with the disorder. We identified 22 different mutations, 18 of which have not previously been reported, in 25 probands. The novel mutations comprise three nonsense, six insertion/deletion, three splice-site, and six missense mutations and are distributed throughout the ATP2C1 gene. Six mutations were found in multiple families investigated here or in our previous study. Haplotype analysis revealed that two of these are recurrent mutations that have not been inherited from a common ancestor. Comparison between genotype and phenotype in 23 families failed to yield any clear correlation between the nature of the mutation and clinical features of HaileyHailey disease. The extensive interfamilial and intrafamilial phenotypic variability observed suggests that modifying genes and/or environmental factors may greatly influence the clinical features of this disease.

Details

show
hide
Language(s): eng - English
 Dates: 2002-02-28
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 27549
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Journal of Investigative Dermatology
  Alternative Title : J Invest Dermatol
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 118 (2) Sequence Number: - Start / End Page: 338 - 343 Identifier: -