title: Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family.
abstract: We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa.
authors.affiliation: Department of Ophthalmology, University of Lund, Sweden.
authors.forename: V
authors.initials: V
authors.lastname: Ponjavic
authors.forename: M
authors.initials: M
authors.lastname: Abrahamson
authors.forename: S
authors.initials: S
authors.lastname: Andréasson
authors.forename: B
authors.initials: B
authors.lastname: Ehinger
authors.forename: G
authors.initials: G
authors.lastname: Fex
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D014794:Visual Fields
chemical_list: D017931:DNA Primers; D012243:Rhodopsin; D001120:Arginine; D007930:Leucine