Mutation analysis of ATP2C1 gene in Chinese families with Hailey-Hailey disease / 中华皮肤科杂志

Objective To detect the mutations in ATP2C1 gene in 3 Chinese Hailey-Hailey-disease (HHD) families and 1 sporadic HHD patient.Methods Three Chinese HHD families and 1 sporadic HHD patient were recruited into this study with informed consent.Blood samples were taken from the patients with HHD,unaffected individuals in the HHD families and 100 unrelated normal human controls.Genomic DNA was extracted from these blood samples.All the exons and exon-intron boundaries of the ATP2C1 gene were amplified by PCR followed by direct sequencing via dye-termination chemistry.Results Three novel missense mutations in ATP2C1 gene were identified,including a 2048 G→A mutation in exon 20 causing the substitution of arginine by lysine at position 619 in the patients from HHD family 1,853A→C mutation in exon 8 causing the substitution of threonine by proline at position 221 in the patients from family 2,and 2323T→C mutation in exon 23 causing the substitution of tyrosine by histidine at position 711.None of these mutations were found in patients from the HHD family 3,unaffected individuals from the HHD family 1 and 2,or the unrelated normal human controls.Conclusion Three novel missense mutations are identified in the ATP2C 1 gene of patients with HHD.

Mutation analysis of ATP2C1 gene in patients with Hailey-Hailey disease / 中华皮肤科杂志

Objective To detect the mutations in ATP2C1 gene of 5 sporadic patients with Hailey-Hailey disease (HHD).Methods Five sporadic patients with HHD collected from the outpatient clinic setting were recruited into this study with informed consent.Blood samples were taken from all patients and 100 unrelated human controls.and DNA was extracted from these samples.Mutation scanning was carried out for ATP2C1 gene by polymerase chain reaction (PCR) and direct sequencing.Results The diagnosis of all cases was confirmed by typical clinical manifestation,cutaneous pathology and immunofluorescence pathology.Five novel mutations.including a deletion mutation (2025delG),three missence mutations (L269R,C348R,A651D) and a non-sense mutation (Q259X) were identified in these cases.No mutations were detected in any of the 100 controls.Conclusion Five novel mutations in ATP2C1 gene have been identified for Hailey-Hailey disease.

Study on the mutations of ATP2C1 gene in patients with Harley-Harley disease / 中华皮肤科杂志

Objective To detect the mutations of ATP2C1 gene in patients with Hailey-Hailey dis- ease (HHD).Methods PCR and direct sequencing were performed in 17 patients and 120 healthy controls to screen the mutations in the exons of ATP2C1 gene.Results Eight mutations were identified in nine probands, including three deletion mutations (nt1464-1487 del/nt1462-1485del,1523delAT,2375delTTGT),three splice site mutations (360—2A→G,1415—2A→T,2243+2T→C) and two missence mutations (C920T and G1942T).None of the above mutations was found in the controls.Conclusion Eight specific novel mutations were identified in nine probands of HHD,which could be causative factors of the disease.