First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

Abstract

Recessively inherited optic neuropathy has been an elusive entity for a long time. Currently, a few causative genes have been described,1-6 associated with a spectrum of isolated or syndromic optic atrophy. Among these genes, TMEM126A (OPA7) was the first to be reported, with a single causative mutation found in all pedigrees identified to date of North African ancestry (c.163C>T; p.Arg55X), thus possibly belonging to the same founder mutational event.1,7,8