1. [Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].
- Author
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Millá E, Maseras M, Martínez-Gimeno M, Gamundi MJ, Assaf H, Esmerado C, and Carballo M
- Subjects
- Amino Acid Substitution, Basic-Leucine Zipper Transcription Factors, DNA Mutational Analysis, DNA-Binding Proteins genetics, Genes, Dominant, Homeodomain Proteins genetics, Humans, Intermediate Filament Proteins genetics, Membrane Proteins genetics, Microtubule-Associated Proteins, Mutation, Missense, Nerve Tissue Proteins genetics, Peripherins, Point Mutation, Retinitis Pigmentosa blood, Retinitis Pigmentosa pathology, Rhodopsin genetics, Tetraspanins, Trans-Activators genetics, Eye Proteins genetics, Membrane Glycoproteins, Mutation, Retinitis Pigmentosa genetics
- Abstract
Objective: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP)., Methods: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL., Results: 148 ADRP index cases were examined at our hospital from June 1991 to September 2001. Genetic analysis detected the following mutations: 29 different families (19.5%) carried a RHO mutation among which the Pro-347-Leu was the most frequent one, five different RP-1 mutations (3.3%), 2 RDS mutations and one NRL mutation, which is the second reported in the world literature., Conclusions: RHO followed by RP1 are the most frequent ADRP-causing genes in our series as in other published ones, and RDS causes mainly macular dystrophies. Molecular characterization was possible in 37 families (25%) which is of great interest for visual prognosis and genetic counselling.
- Published
- 2002