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Hailey-Hailey disease: Molecular and clinical characterization of novel mutations in the ATP2C1 gene

Lookup NU author(s): Catriona Munro, Professor Tom Strachan


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Hailey-Hailey disease is an autosomal dorminant 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 Hailey-Hailey disease. In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 Hailey-Hailey 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 riot 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 Hailey-Hailey 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.

Publication metadata

Author(s): Strachan T; Munro CS; Dobson-Stone C; Fairclough RE; Dunne E; Brown J; Dissanayake M; Burge S; Sudbrak R; Monaco AP; Hofnanian A

Publication type: Article

Publication status: Published

Journal: Journal of Investigative Dermatology

Year: 2002

Volume: 118

Issue: 2

Pages: 338-343

ISSN (print): 0022-202X

ISSN (electronic): 1523-1747

Publisher: Nature Publishing Group


DOI: 10.1046/j.0022-202x.2001.01675.x


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