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Genetic diagnosis of Hailey–Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene
Author(s) -
Ding Y. G.,
Fang H.,
Lao L. M.,
Jiang X. J.,
Chen H. C.
Publication year - 2009
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2009.03715.x
Subject(s) - hailey–hailey disease , genetics , biology , mutation , gene , proband , pedigree chart , genotype , pemphigus , immunology
Summary Hailey–Hailey disease (HHD; OMIM 169600), is an autosomal dominantly inherited disorder characterized by suprabasal cell separation of the epidermis. Mutations in ATP2C1, which encodes the human secretory pathway Ca 2+ / Mn 2 ± ATPase protein 1 (hSPCA1), have been identified as the pathogenic gene of HHD without evidence of genetic heterogeneity. In this study, the ATP2C1 gene was screened in two typical Chinese pedigrees with HHD, and two specific novel mutations of the ATP2CL gene were identified. Family 1 had a 16‐base deletion mutation c.1068–1083del16 and family 2 had a substitution mutation c.1982T>G (p.Met661Arg). DNA sequencing of the three descendants of the probands revealed that they all had the normal genotype, indicating that there had been no transmission of the mutation.