title: Detection of ATP2C1 gene mutation in familial benign chronic pemphigus.
abstract: The ATP2C1 gene mutation in one case of familial benign chronic pemphigus was investigated. One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2C1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was concluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
authors.affiliation: Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
authors.forename: Siyuan
authors.initials: S
authors.lastname: Chen
authors.forename: Changzheng
authors.initials: C
authors.lastname: Huang
authors.forename: Jiawen
authors.initials: J
authors.lastname: Li
mesh_terms: D000328:Adult; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases