title: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
abstract: A number of mutations in the rhodopsin gene have been shown to cause both dominant and recessive retinitis pigmentosa. Here we describe another phenotype associated with a defect in this gene. We discovered a patient with congenital stationary night blindness who carries the missense mutation Ala292Glu. When coupled with 11-cis-retinal in vitro, Ala292Glu rhodopsin is able to activate transducin in a light-dependent manner like wild-type rhodopsin. However, without a chromophore, Ala292Glu opsin anomalously activates transducin. We speculate that the rod dysfunction in this patient is due to an abnormal, continuous activation of transducin by mutant opsin molecules in photoreceptor outer segments.
authors.affiliation: Berman-Gund Laboratory, Harvard Medical School, Boston, Massachusetts 02114.
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
authors.forename: E L
authors.initials: EL
authors.lastname: Berson
authors.forename: V R
authors.initials: VR
authors.lastname: Rao
authors.forename: D D
authors.initials: DD
authors.lastname: Oprian
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000151:congenital / Q000209:etiology / Q000235:genetics*; D004247:DNA / Q000235:genetics; D003624:Darkness; D006579:Heterozygote; D006801:Humans; D008297:Male; D008954:Models, Biological; D008969:Molecular Sequence Data; D009154:Mutation; D012243:Rhodopsin / Q000235:genetics* / Q000528:radiation effects; D015293:Transducin / Q000378:metabolism
chemical_list: D004247:DNA; D012243:Rhodopsin; D015293:Transducin