Chao S-C, Yang M-H, Lee J Y-Y
Department of Dermatology, National Cheng-Kung University Hospital, 138 Sheng-Li Road, 704 Tainan, Taiwan.
Br J Dermatol. 2002 Jun;146(6):958-63. doi: 10.1046/j.1365-2133.2002.04786.x.
Darier's disease (DD) is an autosomal dominant skin disorder characterized by abnormal keratinization and acantholysis. Pathogenic mutations in the ATP2A2 gene encoding SERCA2, a calcium pump of the sarco/endoplasmic reticulum, have recently been identified.
To identify mutations of the ATP2A2 gene in Taiwanese patients with DD.
Mutation analysis of genomic DNA was performed on five families with DD and two sporadic cases. All 21 exons and the flanking intron boundaries were amplified and followed by direct sequencing. Restriction fragment analysis or direct sequencing in each family and in normal controls further verified the mutations.
Mutations in the functional domains of the ATP2A2 gene were identified and verified in all seven pedigrees. They consisted of four mis-sense mutations (R131Q, P680L, G703S, G807R), one altered splice-site mutation (2980 + 5insA) and one frameshift deletion mutation (1457-1458delAG). Of these, R131Q, which was reported twice previously, was detected in two unrelated families. The remaining five were novel mutations.
Six pathogenic mutations in the ATP2A2 gene were identified in seven Taiwanese DD pedigrees. The results confirmed that most mutations in the ATP2A2 gene are private and of the mis-sense type.
达里埃病（DD）是一种常染色体显性遗传性皮肤病，其特征为异常角化和棘层松解。最近已鉴定出编码肌浆网/内质网钙泵SERCA2的ATP2A2基因中的致病突变。
鉴定台湾地区达里埃病患者中ATP2A2基因的突变。
对5个达里埃病家族和2例散发病例的基因组DNA进行突变分析。扩增所有21个外显子及其侧翼内含子边界，随后进行直接测序。每个家族和正常对照中的限制性片段分析或直接测序进一步验证了突变。
在所有7个家系中均鉴定并验证了ATP2A2基因功能域中的突变。它们包括4个错义突变（R131Q、P680L、G703S、G807R）、1个剪接位点改变突变（2980 + 5insA）和1个移码缺失突变（1457 - 1458delAG）。其中，先前已报道过两次的R131Q在两个无关家族中被检测到。其余5个是新突变。
在7个台湾达里埃病家系中鉴定出ATP2A2基因的6个致病突变。结果证实，ATP2A2基因中的大多数突变是私有的且为错义类型。
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