Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2

Vohwinkel syndrome is a rare autosomal dominant disease caused by GJB2 mutations. Patients present with sensorineural deafness, pseudoainhum, stellate keratosis on knuckles, and diffuse honeycombed palmoplantar keratoderma. We present a case of a Taiwanese patient with characteristics of Vohwinkel syndrome. A heterozygous missense mutation c.175G > C (p.Gly59Arg) was identified in the GJB2 gene, encoding the gap junction protein connexin 26. Pathogenic GJB2 mutations have been implicated in a spectrum of diseases from nonsyndromic hearing loss to syndromic hearing loss with palmoplantar keratoderma. This report expands the phenotypic spectrum of the p.Gly59Arg mutation to include Vohwinkel syndrome.