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

Journal article

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 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, ...

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Authors: Dobson-Stone, C; Fairclough, R; Dunne, E; Brown, J; Dissanayake, M

• Publication status: Published
• Journal: Journal of investigative dermatology
• Volume: 118
• Issue: 2
• Pages: 338-343
• Publication date: 2002-02-01
• DOI: 10.1046/j.0022-202x.2001.01675.x
• EISSN: 1523-1747
• ISSN: 0022-202X
• Language: English
• Keywords: Mutation; Humans; Pemphigus, Benign Familial; Calcium-Transporting ATPases; DNA Transposable Elements; Genotype; Infant, Newborn; RNA Splice Sites; Phenotype; Mutation, Missense; Gene Deletion; Haplotypes; Codon, Nonsense