title: [Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity].
abstract: There is considerable clinical variability in autosomal dominant retinitis pigmentosa (ADRP). The underlying biochemical defect had remained unknown until recently, so that it was not possible to determine the primary cause(s) of this phenotypic diversity. Recently, different point mutations and base pair deletions have been identified in the rhodopsin gene in a proportion of patients with ADRP, providing convincing evidence for allelic genetic heterogeneity in this disease. We screened a total of 65 patients with ADRP in Germany, Austria, and Switzerland for the presence of the point mutations described recently at codons 58 and 347 in patients in the USA. Our results show that the frequency of point mutations at codon 347 in the patients studied here is about 3%, a figure similar to that found in the USA. The frequency of the mutation at codon 58 seems to be generally low. The identification of patients with point mutations in the rhodopsin gene offers the possibility, for the first time, of studying the correlation between genotype and disease phenotype.
authors.affiliation: Institut für Humangenetik, Medizinischen Universität, Lübeck, Bundersrepublik Deutschland.
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: C
authors.initials: C
authors.lastname: Samanns
authors.forename: H
authors.initials: H
authors.lastname: Gusseck
authors.forename: G
authors.initials: G
authors.lastname: Niemeyer
authors.forename: M
authors.initials: M
authors.lastname: Ludwig
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003062:Codon / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics
chemical_list: D003062:Codon; D005819:Genetic Markers; D012243:Rhodopsin
vernacular_title: Autosomal-dominant erbliche Retinopathia pigmentosa ist genetisch heterogen.