title: A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
abstract: Recently it has been demonstrated that some families with autosomal dominant retinitis pigmentosa (adRP) have mutations in the rhodopsin gene while others do not. Previously we have identified six such mutations in seven adRP families in this laboratory, one of which was previously described in US patients. We now present a completed screen of the rhodopsin gene in a panel of 39 adRP families, by a rapid screening technique which will be of use for routine diagnosis. Nine different mutations were ultimately found, in a total of twelve of the 39 families. These include the six previously identified mutations, in codons 68-71, 190, 211, 255, 296 and 347, two new ones in codons 53 and 106, and another mutation first identified in a single US patient, in codon 58. Thus approximately 30% of adRP families have 'Rhodopsin RP' while the remainder probably have a defect elsewhere in the genome. Of those families in which rhodopsin mutations have been found, four have been classified D type, three as sectorial RP and the remainder are of uncertain classification. All families excluded from chromosome 3q by linkage have been classified R type. These data suggest a correlation between clinical sub-classification and the underlying rhodopsin/non-rhodopsin heterogeneity.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, London, UK.
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
authors.forename: T J
authors.initials: TJ
authors.lastname: Keen
authors.forename: R
authors.initials: R
authors.lastname: Bashir
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: F
authors.initials: F
authors.lastname: Fitzke
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
authors.forename: A
authors.initials: A
authors.lastname: Crombie
authors.forename: S
authors.initials: S
authors.lastname: Bhattacharya
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005799:Genes, Dominant; D005820:Genetic Testing; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011487:Protein Conformation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D009838:Oligodeoxyribonucleotides; D004247:DNA; D012243:Rhodopsin