中国Darier病患者ATP2A2基因的5个突变及86例报道的文献综述  

Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China

作　　者：王琼 

机构地区：[1]X.-J. Zhang, Institute of Dermatology, Department of Dermatology, Anhui Medical University, 69 Meishan Road, 230032 Hefei, Anhui, China-ARCH. DERMATOL. RES. 2006, 298/2 (58-63)

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第8期27-28,共2页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Darier’ s disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations (N767D, M494I, M494L, C318F)- and one splice-site mutation (1288- 6A → G) in ATP2A2 gene, and presented a literature review of DD cases reported in China since 1989. Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type. Likewise, the literature review indicates that DD is not uncommon in China and presents more information about genotype-phenotype correlations.Darier＇s disease （DD） is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells （acantholysis） and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations （N767D, M494I, M494L, C318F） - and one splice-site mutation （1288 -6A → G） in ATP2A2 gene, and presented a literature review of DD cases reported in China since 1989. Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type. Likewise,

关 键 词：DARIER病 错义突变 文献综述 基因谱 中国 常染色体显性遗传性皮肤病 患者 遗传学基础 棘层松解 位点突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学] R742.402[医药卫生—临床医学]