MISSENSE MUTATION OF RHODOPSIN GENE CODON-15 FOUND IN JAPANESE AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA

Heterozygous missense mutation in codon 15 of the rhodopsin, gene was detected in a patient with autosomal dominant retinitis pigmentosa (AD RP), where a transition of adenine to guanine at the second nucleotide in codon 15 (AAT-->AGT), corresponding to a substitution of serine re sidue for asparagine residue (Asn-15-Ser) was detected. None of the re maining unrelated 42 ADRP, 24 autosomal recessive RP (ARRP) and 34 nor mal individuals had this alteration. Her funduscopic findings were sec torial in type similar to that of the patients with the same mutation found in an Australian pedigree (Sullivan et al., 1993). This study sh ows phenotypic similarities in patients with the same mutation of a di fferent ancestry.