Dermatology
Case Report
Novel Mutation in ATP2C1 Gene in a Japanese Patient with Hailey-Hailey DiseaseOhtsuka T. · Okita H. · Hama N. · Yamazaki S.Department of Dermatology, Koshigaya Hospital, Dokkyo University School of Medicine, Koshigaya, Japan
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Article / Publication Details
Received: April 13, 2005
Accepted: September 10, 2005
Published online: March 15, 2006
Issue release date: February 2006
Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 1
ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)
For additional information: https://www.karger.com/DRM
Abstract
Hailey-Hailey disease (HHD) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae involving predominantly the neck, groin and axillary regions. Histopathology shows suprabasal cleavage in epidermal cells. Recent studies have revealed that HHD is caused by mutations in the ATP2C1 gene encoding a novel Ca2+ pump. We analyzed mutations of the ATP2C1 gene in 2 Japanese patients with HHD. The diagnosis of HHD was made based on the characteristic clinical features and histopathological evidence. All 27 exons and flanking intron boundaries were amplified by polymerase chain reaction and products analyzed by sequencing. As a result, we identified a novel missense mutation (A1087G) in exon 13 of the ATP2C1 gene in a patient. This mutation led the amino acid change from Thrto Ala in the phosphorylation protein domain. Another patient showed no mutation of the gene. These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Japanese HHD patients.
© 2006 S. Karger AG, Basel
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Article / Publication Details
Received: April 13, 2005
Accepted: September 10, 2005
Published online: March 15, 2006
Issue release date: February 2006
Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 1
ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)
For additional information: https://www.karger.com/DRM
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