GJB2基因p.N54H突变致经典型Vohwinkel综合征1例

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 Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.