Hailey-Hailey disease: A novel mutation of the ATP2C1 gene in a Taiwanese family with divergent clinical presentation

Department of Dermatology, Taipei Medical University Hospital, Taipei, Taiwan.
Journal of the European Academy of Dermatology and Venereology (Impact Factor: 2.83). 03/2008; 22(9):1145-6. DOI: 10.1111/j.1468-3083.2007.02562.x
Source: PubMed
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    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. 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.
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    ABSTRACT: To study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family. All exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls. We identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls. The mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 08/2010; 27(4):414-6. DOI:10.3760/cma.j.issn.1003-9406.2010.04.012