Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Abstract GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal dominant non-syndromic hearing loss (DFNA3). In addition, this gene is also associated with skin homeostasis and some mutations in this gene cause autosomal dominant syndromic hearing loss with skin disorders (Keratitis-ichthyosis-deafness syndrome, Hystrix-like icthyosis-deafness syndrome, Palmoplantar keratoderma with deafness syndrome, Vohwinkel syndrome and Bart–Pumphrey syndrome). Herein we report a Japanese sensorineural hearing loss patient with palmoplantar keratoderma who carries a rare compound heterozygote of autosomal dominant and autosomal recessive GJB2 gene mutations. This is the first report of GJB2-associated hearing loss with palmoplantar keratoderma caused by compound heterozygous autosomal dominant and autosomal recessive GJB2 gene mutations in a Japanese patient.