A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease

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成果类型：

期刊论文

作者：

Xiao, Heng;Huang, Xiangjun;Xu, Hongbo;Chen, Xiang;Xiong, Wei;...

通讯作者：

Deng, Hao

作者机构：

[Xu, Hongbo; Deng, Hao; Xiao, Heng; Deng, Xiong; Yang, Zhijian; He, Zhenghao] Cent S Univ, Xiangya Hosp 3, Ctr Expt Med, 138 Tongzipo Rd, Changsha 410013, Hunan, Peoples R China.

[Deng, Hao; Xiao, Heng] Cent S Univ, Xiangya Hosp 3, Dept Neurol, 138 Tongzipo Rd, Changsha 410013, Hunan, Peoples R China.

[Xiao, Heng] Cent S Univ, Xiangya Hosp 3, Dept Pathol, Changsha, Hunan, Peoples R China.

[Huang, Xiangjun] Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China.

[Chen, Xiang] Cent S Univ, Xiangya Hosp, Dept Dermatol, Changsha, Hunan, Peoples R China.

通讯机构：

[Deng, Hao] C

Cent S Univ, Xiangya Hosp 3, Ctr Expt Med, 138 Tongzipo Rd, Changsha 410013, Hunan, Peoples R China.

Cent S Univ, Xiangya Hosp 3, Dept Neurol, 138 Tongzipo Rd, Changsha 410013, Hunan, Peoples R China.

语种：

英文

关键词：

ATP2C1 gene;Hailey-Hailey disease (HHD);mutation analysis;Sanger sequencing;splice-site mutation

期刊：

Journal of Cellular Biochemistry

ISSN：

0730-2312

年：

2019

卷：

120

期：

页码：

3630-3636

DOI：

10.1002/jcb.27640

基金类别：

Grant for Foster Key Subject of the Third Xiangya Hospital of Central South University (Clinical Laboratory Diagnostics); Natural Science Foundation of Hunan ProvinceNatural Science Foundation of Hunan Province [2016JJ2166, 2017JJ3469, 12JJ6020]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81670216]; Scientific Research Project of Health and Family Planning Commission of Hunan Province [C20180615]; National-level College Students' Innovative Training Plan Program [201610533288, 201810533241]; National Key Research and Development Program of China [2016YFC1306604]; New Xiangya Talent Project of the Third Xiangya Hospital of Central South University [20150301]

机构署名：

本校为其他机构

院系归属：

第一中医临床学院

摘要：

Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is an autosomal dominant genodermatosis. It is characterized by erosions, blisters and erythematous plaques at sites of friction or intertriginous areas. The pathogenic gene of HHD has been revealed as the ATPase secretory pathway Ca(2+) transporting 1 gene ( ATP2C1), which encodes the protein, secretory pathway Ca (2+)/Mn (2+)-ATPase 1 (SPCA1). ATP2C1 gene mutations are responsible for HHD by resulting in abnormal Ca (2+) homeostasis in the skin and giving rise to acantholysis, a characteristic pathology of HHD. In ...

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A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease

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