G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma

Abstract

Mutations in the GJB2 gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as asyndromic hearing impairment with skin problems. A dominant GJB2 mutation, c.389G > T (p.G130V), has been reported previously in association with hearing impairment and palmoplantar keratoderm. Here we report the first de novo G130V mutation of GJB2 gene in a sporadic case of hearing loss in a consanguineous Iranian family which is not associated with skin disorder.

Keywords: De novo; GJB2; Nonsyndromic hearing loss; Palmoplantar keratoderma.