A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease.
A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease.
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DOI：
10.2340/00015555-1551
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发表时间：
2013-10
影响因子：
3.6
通讯作者：
A. Shibata;K. Sugiura;Utako Kimura;K. Takamori;M. Akiyama
中科院分区：
文献类型：
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作者：
A. Shibata;K. Sugiura;Utako Kimura;K. Takamori;M. Akiyama
Hailey-Hailey病（HHD，MIM 16960）是一种常染色体显性遗传疾病，其特征在于表皮的基底上细胞分离（棘层松解）。其临床特征各不相同，包括结痂性糜烂伴水泡性脓疱，以及摩擦和屈曲部位的鳞状斑块。皮肤损伤通常因热、出汗、机械创伤、感染和暴露于紫外线B（UVB）而加重（1）。患者存在编码高尔基体上ATP酶，Ca 2+转运，2C型，成员1（ATP 2C 1）的ATP 2C 1缺陷（2）。我们对一例日本HHD患者的ATP 2C 1基因进行了突变分析，发现了杂合的新突变c.212delT（p.Leu71ArgfsX26）。这是一个非常早期的截短突变，这清楚地表明单倍不足是HHD的潜在病理机制。
Hailey-Hailey disease (HHD, MIM 16960) is an autosomal dominant disease characterized by suprabasal cell separation (acantholysis) of the epidermis. The clinical features vary and include crusted erosions with vesicular pustules, and erythematous scaly plaques at sites of friction and flexures. The skin lesions are often exacerbated by heat, sweating, mechanical trauma, infection and exposure in ultraviolet B (UVB) (1). Patients have a defect in ATP2C1 encoding the ATPase, Ca2+-transporting, type 2C, member 1; (ATP2C1) on the Golgi apparatus (2). We performed mutation analysis of ATP2C1 in a Japanese patient with HHD and identified the heterozygous novel mutation c.212delT (p.Leu71ArgfsX26). This is a very early truncating mutation, which clearly suggests that haploinsufficiency is an underlying patho mechanism of HHD.