GJB2基因p.N54H突变致经典型Vohwinkel综合征1例

doi:10.35541/cjd.20210598

中华皮肤科杂志 ›› 2023, Vol. 56 ›› Issue (7): 669-672.doi: 10.35541/cjd.20210598

GJB2基因p.N54H突变致经典型Vohwinkel综合征1例

宋德宇¹ 王嘉玥¹ 耿佳² 邹美熔¹ 李仲桃¹ 陈玉沙¹ 汪盛¹

¹四川大学华西医院皮肤性病科，成都 610041；²四川大学华西医院罕见病研究院，成都 610041

收稿日期:2021-08-18 修回日期:2022-11-19 发布日期:2023-07-04
通讯作者: 汪盛 E-mail:wangsheng1892@126.com
基金资助:
四川省科技厅重点研发项目（2020YFS0197）；四川省卫生健康委员会普及应用项目（19PJ103、20PJ065）；中国博士后科学基金资助项目（2020M683318）；四川大学华西医院专职博士后研发基金（2020HXBH029）

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

Song Deyu¹, Wang Jiayue¹, Geng Jia², Zou Meirong^1, Li Zhongtao¹, Chen Yusha¹, Wang Sheng¹

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 Published:2023-07-04
Contact: Wang Sheng E-mail:wangsheng1892@126.com
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）

摘要/Abstract

摘要： 【Abstract】 Objective To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness. Methods Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites. Results Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C （p.N54H） in the GJB2 gene, which was not detected in her parents or healthy controls. Conclusion The heterozygous mutation c.160A>C （p.N54H） in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.

关键词: 皮肤角化病, 掌跖, 听力障碍, DNA突变分析, Vohwinkel综合征, GJB2基因

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

宋德宇王嘉玥耿佳邹美熔李仲桃陈玉沙汪盛. GJB2基因p.N54H突变致经典型Vohwinkel综合征1例[J]. 中华皮肤科杂志, 2023,56(7):669-672. doi:10.35541/cjd.20210598

Song Deyu, Wang Jiayue, Geng Jia, Zou Meirong, Li Zhongtao, Chen Yusha, Wang Sheng. A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene[J]. Chinese Journal of Dermatology, 2023, 56(7): 669-672.doi:10.35541/cjd.20210598

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GJB2基因p.N54H突变致经典型Vohwinkel综合征1例

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

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