E114G de Novo Mutation in GJB2 Gene in a Chinese Patient with Classical Vohwinkel Syndrome
Abstract
Vohwinkel syndrome (VS) is a rare autosomal dominant form of palmoplantar keratoderma (PPK), characterized by diffuse hyperkeratosis of the palms and soles, starfish-shaped keratotic lesions, and pseudo-ainhum. Mutations in GJB2 have been implicated in VS pathogenesis. In this study, Sanger sequencing of the GJB2 coding exons and exon-intron boundaries was performed in a Chinese patient with VS. A missense mutation c.341A>G (E114G) was also identified. This finding expands the mutational spectrum of VS and provides further insight into its genetic basis, which may facilitate improved genetic screening and counseling of affected families.
Fields of Study & Subjects
Genetic and rare skin diseases.
Skin and Cellular Biology Research
Genomics and Rare Diseases
Publication details
- Journal / source
- International Medical Case Reports Journal
- Volume
- Volume 19
- Pages
- 1–5
- Publication date
- 1 February 2026
- Language
- EN