Chao Sheau-Chiou, Tsai Y-M, Yang M-H
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, 138 Sheng-Li Road, 704 Tainan, Taiwan.
Br J Dermatol. 2002 Apr;146(4):595-600. doi: 10.1046/j.1365-2133.2002.04697.x.
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.
To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD.
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.
We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one mis-sense 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.
These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.
黑利-黑利病（HHD）是一种常染色体显性疾病，主要累及颈部、腹股沟和腋窝区域，反复出现水疱和大疱。组织病理学显示表皮细胞基底层上的分裂。最近的研究表明，HHD是由编码一种新型钙泵的ATP2C1基因突变引起的。
分析台湾HHD患者中ATP2C1基因的突变情况。
从病历中检索出总共5例家族性和2例散发性HHD病例。HHD的诊断基于特征性临床特征和组织病理学证据。通过聚合酶链反应扩增所有27个外显子及其侧翼内含子边界，并通过直接测序分析产物。
我们鉴定出6种新突变和1种已报道的突变：3种缺失突变（nt884 - 904del、1459delCTCA、1975delA）、2种无义突变（R39X、R783X）、1种错义突变（A730T）和1种剪接突变（483 + 2T→A）。无义突变R39X先前已有报道；其他6种突变是新突变。
这些结果表明台湾HHD患者中存在一系列ATP2C1基因突变。
