title: Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
abstract: It has been shown recently that autosomal dominant retinitis pigmentosa may be caused by point mutations of the rhodopsin gene in a portion of families. In this communication, a large six-generation family with autosomal dominant RP is described. Molecular analysis by PCR amplification followed by restriction digestion or heteroduplex analysis suggested a point mutation in codon 347, in which two different mutations (Pro-347-Ser and Pro-347-Leu) have already been reported. Direct sequencing of the patients' DNA revealed a previously undescribed CCG----CGG transversion in codon 347 predicting a Pro----Arg substitution. Ophthalmological data of the patients are summarized and compared to those of patients with other mutations in the rhodopsin gene.
authors.affiliation: Institut für Humangenetik, Medizinische Universität, Lübeck, Federal Republic of Germany.
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: A
authors.initials: A
authors.lastname: Artlich
authors.forename: M
authors.initials: M
authors.lastname: Ludwig
authors.forename: G
authors.initials: G
authors.lastname: Niemeyer
authors.forename: K
authors.initials: K
authors.lastname: Olek
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D001483:Base Sequence; D015342:DNA Probes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009841:Oligonucleotides / Q000138:chemical synthesis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D015342:DNA Probes; D009841:Oligonucleotides; D012243:Rhodopsin