Wada T, Shirakata Y, Takahashi H, Murakami S, Iizuka H, Suzuki H, Hashimoto K
Department of Dermatology, Ehime University School of Medicine, Shitsukawa, Shigenobucho, Onsengun, Ehime 791-0295, Japan.
Br J Dermatol. 2003 Jul;149(1):185-8. doi: 10.1046/j.1365-2133.2003.05412.x.
Darier's disease 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 Darier's disease. Segmental Darier's disease is a rare type of Darier's disease in which there is characteristic localization of the keratotic papules in a linear pattern following Blaschko's lines. In this study we examined ATP2A2 mutations in a Japanese patient with segmental Darier's disease. The samples from affected skin, unaffected skin and peripheral leucocytes were subjected to polymerase chain reaction (PCR). Direct sequencing of the PCR products was performed. Sequence analysis revealed that the patient had 160A-->G substitution mutation which predicts I54V. This novel mutation was present in the affected skin, but not in the unaffected skin or peripheral leucocytes. This is the first report of segmental Darier's disease caused by mosaicism for an ATP2A2 mutation in Japan.
毛囊角化病是一种常染色体显性遗传性皮肤病，其特征为多发性角化性丘疹、局部黏附丧失及异常角化。编码肌浆网/内质网钙泵ATP酶2型的ATP2A2基因突变已被确定为毛囊角化病的分子基础。节段性毛囊角化病是毛囊角化病的一种罕见类型，其角化性丘疹沿Blaschko线呈线状特征性分布。在本研究中，我们检测了一名患有节段性毛囊角化病的日本患者的ATP2A2基因突变。对取自受累皮肤、未受累皮肤及外周血白细胞的样本进行聚合酶链反应（PCR）。对PCR产物进行直接测序。序列分析显示，该患者存在160A→G替代突变，预测为I54V。这一新型突变存在于受累皮肤中，但不存在于未受累皮肤或外周血白细胞中。这是日本首例关于由ATP2A2基因突变镶嵌现象导致节段性毛囊角化病的报道。
