OBJECTIVETo study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.

METHODAll exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.

RESULTSWe identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.

CONCLUSIONThe splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.

Asian Continental Ancestry Group ; Calcium-Transporting ATPases ; genetics ; Humans ; Mutation ; Pedigree ; Pemphigus, Benign Familial ; genetics

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.
Calcium-Transporting ATPases/*genetics ; DNA Mutational Analysis ; Pemphigus, Benign Familial/*genetics ; Sequence Deletion

OBJECTIVETo study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family.

METHODSAll exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls.

RESULTSWe identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls.

CONCLUSIONThe mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.

Asian Continental Ancestry Group ; genetics ; Calcium-Transporting ATPases ; genetics ; DNA Mutational Analysis ; Humans ; Pedigree ; Pemphigus, Benign Familial ; genetics

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.

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