[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease].
OBJECTIVE
To screen and identify gene mutations of 11 Chinese patients with Hailey-Hailey disease (HHD).


METHODS
Cases of HHD were diagnosed by history, clinical menifestations and pathology. Then genomic DNA samples of patients were extracted from perpheral blood leukocytes, and polymerase chain reaction(PCR), DNA sequencing were performed.


RESULTS
We found five mutations in ATP2C1 gene including 3 nonsense mutations and 2 splicing mutations. Four of them were novel mutations.


CONCLUSIONS
Both nonsense mutation and splicing mutation could affect the rusult of transcription, translation, and the functions of protein encoded by ATP2C1 gene, so the mutations reported in this study is the underlying cause of HHD.
Li
Hang
H
Department of Dermatology, Peking University First Hospital, Beijing 100034, China.
Sun
Xiukun
X
Bu
Dingfang
D
Zhu
Xuejun
X
D044466:Asian People; D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D018389:Codon, Nonsense; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases