Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease

Sheau-Chiou Chao, Y. M. Tsai, M. H. Yang

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

Background: 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. Objectives: To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD. Methods: In total, five familial and two sporadic cases of HHD were retrieved from the medical records. 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 analysed by direct sequencing. Results: We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one missense mutation (A730T) and one splicing mutation (483 + 2T → A). The non-sense mutation R39X had been reported previously; the other six mutations are novel mutations. Conclusions: These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.

Original languageEnglish
Pages (from-to)595-600
Number of pages6
JournalBritish Journal of Dermatology
Volume146
Issue number4
DOIs
Publication statusPublished - 2002 May 6

Fingerprint

Benign Familial Pemphigus
Mutation
Genes
Groin
Sequence Deletion
Missense Mutation
Blister
Introns
Medical Records
Exons
Neck

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

@article{75ce93e7a6394883b62135d6033d8bb2,
title = "Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease",
abstract = "Background: 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. Objectives: To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD. Methods: In total, five familial and two sporadic cases of HHD were retrieved from the medical records. 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 analysed by direct sequencing. Results: We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one missense mutation (A730T) and one splicing mutation (483 + 2T → A). The non-sense mutation R39X had been reported previously; the other six mutations are novel mutations. Conclusions: These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.",
author = "Sheau-Chiou Chao and Tsai, {Y. M.} and Yang, {M. H.}",
year = "2002",
month = "5",
day = "6",
doi = "10.1046/j.1365-2133.2002.04697.x",
language = "English",
volume = "146",
pages = "595--600",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "4",

}

Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. / Chao, Sheau-Chiou; Tsai, Y. M.; Yang, M. H.

In: British Journal of Dermatology, Vol. 146, No. 4, 06.05.2002, p. 595-600.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease

AU - Chao, Sheau-Chiou

AU - Tsai, Y. M.

AU - Yang, M. H.

PY - 2002/5/6

Y1 - 2002/5/6

N2 - Background: 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. Objectives: To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD. Methods: In total, five familial and two sporadic cases of HHD were retrieved from the medical records. 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 analysed by direct sequencing. Results: We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one missense mutation (A730T) and one splicing mutation (483 + 2T → A). The non-sense mutation R39X had been reported previously; the other six mutations are novel mutations. Conclusions: These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.

AB - Background: 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. Objectives: To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD. Methods: In total, five familial and two sporadic cases of HHD were retrieved from the medical records. 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 analysed by direct sequencing. Results: We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one missense mutation (A730T) and one splicing mutation (483 + 2T → A). The non-sense mutation R39X had been reported previously; the other six mutations are novel mutations. Conclusions: These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.

UR - http://www.scopus.com/inward/record.url?scp=0036235818&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036235818&partnerID=8YFLogxK

U2 - 10.1046/j.1365-2133.2002.04697.x

DO - 10.1046/j.1365-2133.2002.04697.x

M3 - Article

C2 - 11966689

AN - SCOPUS:0036235818

VL - 146

SP - 595

EP - 600

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 4

ER -