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。
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.
作者
宋德宇
王嘉玥
耿佳
邹美熔
李仲桃
陈玉沙
汪盛
Song Deyu;Wang Jiayue;Geng Jia;Zou Meirong;Li Zhongtao;Chen Yusha;Wang Sheng(Department of Dermatology and Venereology,West China Hospital,Sichuan University,Chengdu 610041,China;Institute of Rare Diseases,West China Hospital,Sichuan University,Chengdu 610041,China)
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2023年第7期669-672,共4页
Chinese Journal of Dermatology
基金
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)。
