Chinese Journal of Dermatology ›› 2023, Vol. 56 ›› Issue (7): 669-672.doi: 10.35541/cjd.20210598

• Research Reports • Previous Articles     Next Articles

A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene

Song Deyu1, Wang Jiayue1, Geng Jia2, Zou Meirong1, Li Zhongtao1, Chen Yusha1, Wang Sheng1   

  1. 1Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu 610041, China; 2Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu 610041, China
  • Received:2021-08-18 Revised:2022-11-19 Online:2023-07-15 Published:2023-07-04
  • Contact: Wang Sheng
  • Supported by:
    Key Technology R&D Program of the Science and Technology Department of Sichuan Province (2020YFS0197); Health Commission of Sichuan Province Project (19PJ103, 20PJ065); China Postdoctoral Science Foundation (2020M683318); Post-Doctor Research Project, West China Hospital, Sichuan University (2020HXBH029)

Abstract: 【摘要】 目的 检测1例表现为掌跖角化、假性阿洪及耳聋的Vohwinkel综合征患者的基因变异。方法 采集先证者临床信息,并检测分析基因突变位点。结果 先证者临床表现符合经典型Vohwinkel综合征,基因检测发现GJB2基因c.160A>C(p.N54H)杂合突变, 患者父母及健康对照均未发现此位点变异。结论 GJB2基因c.160A>C(p.N54H)突变首次被发现与经典型Vohwinkel综合征相关,经典型Vohwinkel综合征及掌跖角皮症伴耳聋之间存在变异位点重叠。

Key words: Keratoderma, palmoplantar, Hearing disorders, DNA mutational analysis, Vohwinkel syndrome, GJB2 gene