Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
- Author:
Xiao-li LI
1
;
Zhen-hui PENG
;
Sheng-xiang XIAO
;
Yan LIU
;
Min PAN
;
Shao-na ZHOU
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Calcium-Transporting ATPases; genetics; Case-Control Studies; Codon, Nonsense; DNA Mutational Analysis; Exons; genetics; Female; Humans; Male; Middle Aged; Mutation; Mutation, Missense; Pedigree; Pemphigus, Benign Familial; genetics; Sequence Alignment; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2008;25(1):63-65
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).
METHODSGenomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.
RESULTSThree mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.
CONCLUSIONAll the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
