点状掌跖角化病遗传学研究进展  

Genetics of punctate palmoplantar keratoderma

作　　者：贾月琴[1] 骆丹[2] Jia Yueqin Luo Dan(Department of Dermatology, Tongling People＇s Hospital, Tongling 244000, Anhui, Chin Department of Dermatology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029 China)

机构地区：[1]安徽省铜陵市人民医院皮肤科,244000 [2]南京医科大学第一附属医院皮肤科

出　　处：《国际皮肤性病学杂志》2017年第2期99-101,共3页International Journal of Dermatology and Venereology

基　　金：铜陵市卫生科研项目（铜卫科[2015]2号）

摘　　要：点状掌跖角化病是一种以掌跖部不规则分布、进行性加重的角化性丘疹为特征的常染色体显性遗传性皮肤病。目前已报道AAGAB基因和COL14A1 基因是点状掌跖角化病致病基因，除此之外，可能还存在其他致病基因。迄今为止，在多个种族或民族点状掌跖角化病家系中已发现39种AAGAB基因突变和1个COL14A1 基因突变位点。AAGAB基因突变导致其编码的p34蛋白功能缺失或不足，使表皮生长因子受体再循环发生障碍，角质形成细胞发生过度增殖，导致点状掌跖角化病发生。COL14A1 基因突变的致病性有待于蛋白质功能学研究、体外细胞实验以及该基因突变在其他点状掌跖角化病家系内重复性验证等进一步证实。Punctate palmoplantar keratoderma （PPPK） is an autosomal？dominant inherited skin disease characterized by progressively worsened hyperkeratotic papules irregularly distributed on the palms and soles. Recent studies have demonstrated that the AAGAB and COL14A1 genes are pathogenic genes of PPPK. In addition, there may be other causative genes for PPPK. So far, a total of 39 AAGAB gene mutations and 1 COL14A1 gene mutation have been reported in families of multiple races and nationalities with PPPK. AAGAB gene mutations can cause functional loss or insufficiency of protein p34, then the impairment of epidermal growth factor receptor （EGFR） recycling and keratinocyte hyperproliferation, and finally lead to the occurrence of PPPK. Studies of the protein function, in vitro cell experiments and repeatability verification tests in other PPPK families are all required to confirm the role of the COL14A1 gene mutation in PPPK.

关 键 词：皮肤角化病 掌跖 遗传 染色体障碍 基因 突变 

分 类 号：R758.53[医药卫生—皮肤病学与性病学]