Detection of ATP2C1 gene mutations in a family with generalized familial benign chronic pemphigus
- VernacularTitle:泛发性家族性良性慢性天疱疮1家系ATP2C1基因变异检测
- Author:
Yujiao SUN
1
;
Jianbo WANG
;
Ziyu DUAN
;
Jinfa DOU
;
Yan LI
;
Jianguo LI
;
Shoumin ZHANG
Author Information
- Keywords: Pemphigus, benign familial; Erythema; Blister; Mutation; ATP2C1 gene
- From: Chinese Journal of Dermatology 2023;56(4):335-337
- CountryChina
- Language:Chinese
- Abstract: A 60-year-old female proband presented with recurrent erythema, blisters and erosions all over the body for 30 years, which had been aggravated 10 days prior to the presentation. Skin examination showed erythematous swelling of the bilateral eyelids with scattered dark red crusts, scattered erythema and erosions on the nasolabial folds and chin, large areas of erythema and erosions on the neck, bilateral axillae, left cubital fossa, perineum and perianal area, accompanied by bright red granulation tissues and positive Nikolsky′s sign. The proband had two sons, both of whom occasionally presented with erythema and erosions on the axillae and groin, and had not been diagnosed or treated. Blood samples were collected from the proband and her two sons, and genomic DNA was extracted and subjected to whole-exome sequencing. A heterozygous deletion mutation c.955_957del (p.A319del) was identified in the ATP2C1 gene in the proband and her two sons, which had not been previously reported. The patient was finally diagnosed with generalized familial benign chronic pemphigus.
