A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's disease

Darier's disease (DD) is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molec...

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Bibliographic Details
Published in:Archives of dermatological research 2004-06, Vol.296 (1), p.21-24
Main Authors: SEN YANG, SUN, Liang-Dan, ZHU, Yi-Yuan, DA LIN, ZHANG, Xue-Jun, LIU, Hong-Sheng, WANG, Ji-Yun, HE, Ping-Ping, MING LI, MIN GAO, LIU, Jiang-Bo, JIE YANG, WANG, Zai-Xing
Format: Article
Language:English
Subjects:
Adenine
Adult
Asian Continental Ancestry Group - genetics
Base Sequence
Biological and medical sciences
Calcium-Transporting ATPases - genetics
Darier Disease - ethnology
Darier Disease - genetics
Darier Disease - pathology
Dermatology
Dyskeratosis
Female
Guanine
Heterozygote
Humans
Medical sciences
Mutation, Missense
Pedigree
Sarcoplasmic Reticulum Calcium-Transporting ATPases
Skin - pathology
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Summary:Darier's disease (DD) is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of DD. We report here a three-generation family with DD, and examined ATP2A2 gene mutations in this family by direct sequencing. A novel missense mutation A-->G was identified in exon 12, nucleotide 1704, which leads to the substitution of lysine by arginine at codon 514 (K514R). This study contributes to the database on ATP2A2 in DD, and further illustrates the extensive diversity of mutational events that lead to the different phenotypes of DD.
ISSN:0340-3696
1432-069X
DOI:10.1007/s00403-004-0467-2