Vohwinkel综合症分子遗传学研究进展  

Molecular genetic pathogenesis of Vohwinkel syndrome

作　　者：凌霞 王震英[1] 张莉[1] LING Xia;WANG Zhenying;ZHANG Li(Department of Dermatology,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan,250021,China;Graduate Institute of Shandong First Medical University&Shangdong Academy of Medical Sciences,Jinan,250117,China.)

机构地区：[1]山东第一医科大学附属山东省立医院皮肤科,山东济南250021 [2]山东第一医科大学(山东省医学科学院)研究生部,山东济南250117

出　　处：《山东第一医科大学（山东省医学科学院）学报》2023年第8期622-626,共5页Journal of Shandong First Medical University ＆ Shandong Academy of Medical Sciences

基　　金：山东省自然科学基金(ZR2019MH029)。

摘　　要：Vohwinkel综合症是罕见的常染色体显性遗传性皮肤病,病情严重时可致残致畸。目前尚无有效的治疗方法。对该病的致病基因进行功能学研究,是探讨Vohwinkel综合症发病机制与治疗的关键。目前已发现2个该病的相关位点:1定位于染色体13q11⁃q12上,接近连接蛋白26基因编码区(GJB2);2定位于染色体1q21上,接近兜甲蛋白基因编码区(LOR)。突变基因致病机制仍不十分清楚,本文对该病发病机制中的各种分子变化和突变基因及其功能研究进行综述,旨在为该病致病基因功能学研究提供思路。Vohwinkel syndrome is a rare autosomal dominant dermatosis,which can cause disability and deformity in severe cases.At present,there is no effective treatment.Functional study of the pathogenic gene is the key to exploration of the pathogenesis and treatment of Vohwinkel syndrome.At present,two loci have been found to be associated with the disease:ge113q11-q12,close to the coding region of connexin 26 gene(GJB2) gene;c21q21,near to the coding region of loricrin(LOR gene).The pathogenesis of mutated genes remains unclear.In this paper,we will review various molecular and mutated genes and their functions in the pathogenesis of the disease,trying to provide ideas for the functional research of mutated genes.

关 键 词：Vohwinkel综合症 致病基因 基因功能 连接蛋白26 兜甲蛋白 

分 类 号：R751[医药卫生—皮肤病学与性病学]