GJB3 and erythrokeratodermia variabilis: Highly expressed in upper differentiating epidermis (Di et al., 2001) and cochlear (Richard et al., 2000), mutations of GJB3 can result in different diseases including erythrokeratodermia variabilis (EKV) and non-syndromic hearing loss (NSHL) ranging from profound congenital deafness to mild, progressive hearing loss in late childhood.