title: A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
abstract: Mutations within the rhodopsin gene are known to give rise to autosomal dominant retinitis pigmentosa (RP), a common hereditary form of retinal degeneration. We now describe a patient with autosomal recessive RP who is homozygous for a nonsense mutation at codon 249 within exon 4 of the rhodopsin gene. This null mutation, the first gene defect identified in autosomal recessive retinitis pigmentosa, should result in a functionally inactive rhodopsin protein that is missing the sixth and seventh transmembrane domains including the 11-cis-retinal attachment site. We also found a different null mutation carried heterozygously by an unrelated unaffected individual. Heterozygous carriers of either mutation had normal ophthalmologic examinations but their electroretinograms revealed an abnormality in rod photoreceptor function.
authors.affiliation: Howe Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
authors.forename: P J
authors.initials: PJ
authors.lastname: Rosenfeld
authors.forename: G S
authors.initials: GS
authors.lastname: Cowley
authors.forename: T L
authors.initials: TL
authors.lastname: McGee
authors.forename: M A
authors.initials: MA
authors.lastname: Sandberg
authors.forename: E L
authors.initials: EL
authors.lastname: Berson
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D000221:Adaptation, Ocular; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003624:Darkness; D004596:Electroretinography; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010786:Photoreceptor Cells / Q000503:physiopathology; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D004247:DNA; D012243:Rhodopsin