A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene
- VernacularTitle:GJB2基因p.N54H突变致经典型Vohwinkel综合征1例
- Author:
Deyu SONG
1
;
Jiayue WANG
;
Jia GENG
;
Meirong ZOU
;
Zhongtao LI
;
Yusha CHEN
;
Sheng WANG
Author Information
- Keywords: Keratoderma, palmoplantar; Hearing disorders; DNA mutational analysis; Vohwinkel syndrome; GJB2 gene
- From: Chinese Journal of Dermatology 2023;56(7):669-672
- CountryChina
- Language:Chinese
- 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.
