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A Novel R799X Mutation of ATP2C1 Gene in a Chinese Family with Hailey-Hailey Disease
Youxing Ye1, Baoqing Deng2, Yanhua Liang3
1Department of Dermatology, The Second Affiliated Hospital, School of Medicine, The Chinese University of Hong Kong, Shenzhen & Longgang District People's Hospital of Shenzhen, Shenzhen, Guangdong, People's Republic of China.
Background:
Hailey-Hailey disease (HHD) is an autosomal dominantly inherited blistering dermatosis caused by mutations in the ATP2C1 gene, which encodes the human secretory pathway Ca2⁺/Mn2⁺ ATPase protein (hSPCA1).
Methods:
We collected a four-generation Chinese HHD family with 6 affected patients. Genomic DNA was isolated from family members and a matched control cohort. All 27 exons and flanking intronic sequences of the ATP2C1 gene were amplified by PCR and subjected to direct sequencing.
Results:
A novel heterozygous nonsense mutation, c.2395C>T (p.R799X), was identified in exon 25 of the ATP2C1 gene. This mutation co-segregated with the disease phenotype in the family and was absent in 100 unrelated healthy controls.
Conclusion:
This finding expands the mutation spectrum of ATP2C1 underlying HHD and provides a molecular basis for genetic counseling and early diagnosis of at-risk family members.
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