GJB2基因p.N54H突变致经典型Vohwinkel综合征1例

doi:10.35541/cjd.20210598

Abstract

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

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

References ［13］

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

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