Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

• DOI: 10.1007/bf01899733
• Publication Date: 2005-07-05T13:53:45Z
• Authors: Keiko Fujiki; Yoshihiro Hotta; Mutsuko Hayakawa; Hitoshi Sakuma; Takashi Shiono; Michiru Noro; Takehiko Sakuma; Makoto Tamai; Kazumasa Hikiji; Ryuji Kawaguchi; Akihiko Hoshi; Akira Nakajima; Atsushi Kanai
• Keywords: Adult; Male; Rhodopsin; Adolescent; Base Sequence; DNA Mutational Analysis; Deoxyribonucleotides; Molecular Sequence Data; Pedigree; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Japan; Humans; Point Mutation; Female; Codon; Retinitis Pigmentosa; Genes, Dominant

The mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG-->ATG) and a family including 4 patients with codon 347 mutation (Pro-347-Leu, CCG-->CTG) were detected among them. Their clinical findings were extremely different between the two mutations. The former showed type 2 and the latter showed type 1 ADRP. No mutation of codon 23 and 58 was detected in any families so far analyzed in the present study. Clinical findings associated with the mutation in codon 17 and 347 of the rhodopsin gene show an existence of allelic heterogeneity.