| Summary: | 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.
|
|---|