Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease.

Author: Zheng-Zhong ZHANG ¹ ; Wei LI ; Fu-Sheng ZHOU ; Min GAO ; Feng-Li XIAO ; Qiao-Yun FANG ; Yu-Jun SHEN ; Wen-Hui DU ; Wei-Chi SUI ; Sen YANG ; Xue-Jun ZHANG
Author Information

1. Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Disease, Ministry of Education and Anhui Province, Hefei 230032, China.
Publication Type:Journal Article
MeSH: Asian Continental Ancestry Group; Calcium-Transporting ATPases; genetics; Humans; Mutation; Pedigree; Pemphigus, Benign Familial; genetics
From: Acta Academiae Medicinae Sinicae 2007;29(2):163-166
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.
METHODAll exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.
RESULTSWe identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.
CONCLUSIONThe splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.