title: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
abstract: We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutations is a single-base substitution corresponding to a single amino acid substitution. Based on current models for the structure of rhodopsin, 3 of the 17 mutant amino acids are normally located on the cytoplasmic side of the protein, 6 in transmembrane domains, and 8 on the intradiscal side. Forty-three of the 150 patients (29%) carry 1 of these mutations, and no patient has more than 1 mutation. In every family with a mutation so far analyzed, the mutation cosegregates with the disease. We found one instance of a mutation in an affected patient that was absent in both unaffected parents (i.e., a new germ-line mutation), indicating that some "isolate" cases of retinitis pigmentosa carry a mutation of the rhodopsin gene.
authors.affiliation: Howe Laboratory of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston.
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
authors.forename: L B
authors.initials: LB
authors.lastname: Hahn
authors.forename: G S
authors.initials: GS
authors.lastname: Cowley
authors.forename: T L
authors.initials: TL
authors.lastname: McGee
authors.forename: E L
authors.initials: EL
authors.lastname: Berson
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002462:Cell Membrane / Q000378:metabolism; D003062:Codon / Q000235:genetics; D005091:Exons; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008961:Models, Structural; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D016376:Oligonucleotides, Antisense; D010375:Pedigree; D011487:Protein Conformation; D015183:Restriction Mapping; D012168:Retinal Pigments / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D017299:Rod Opsins
chemical_list: D003062:Codon; D005136:Eye Proteins; D009838:Oligodeoxyribonucleotides; D016376:Oligonucleotides, Antisense; D012168:Retinal Pigments; D017299:Rod Opsins; D012243:Rhodopsin