Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)
Copyright policy )Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)
A Dutch family with autosomal dominant retinitis pigmentosa (adRP) displayed a phenotype characterized by an early age of onset, a diffuse loss of rod and cone sensitivity, and constricted visual fields (type I). One male showed a mild progression of the disease. Linkage analysis showed cosegregation of the genetic defect with markers from chromosome 17p13.1-p13.3, a region overlapping the RP13 locus. The critical interval of the RP locus as defined in this family was flanked by D17S926 and D17S786, with a maximal lod score of 4.2 (theta = 0.00) for marker D17S1529. Soon after the mapping of the underlying defect to the 17p13 region, a missense mutation (6970G>A; R2310K) was identified in exon 42 of the splicing factor gene PRPC8 in one patient of this family. Diagnostic restriction enzyme digestion of exon 42 amplified from genomic DNA of all family members revealed that the R2310K mutation segregated fully with the disease. The type I phenotype observed in this family is similar to that described for three other RP13 families with mutations in PRPC8.
- The University of Texas System United States
- Radboud University Nijmegen Netherlands
- Radboud University Nijmegen Medical Centre Netherlands
- The University of Texas Health Science Center at Houston United States
- Center for Human Genetics United States
Adult, Male, Adolescent, Genetic Linkage, Elucidation of hereditary disorders and their molecular diagnosis, DNA Mutational Analysis, Mutation, Missense, Erfelijke en verworven vitreo-retinale aandoeningen: experimenteel en klinisch onderzoek en behandeling., Polymerase Chain Reaction, Hereditary and acquired vitreo-retinal disorders: experimental and clinical research and treatment., Humans, RNA, Messenger, Child, Eye Proteins, Adaptor Proteins, Signal Transducing, DNA Primers, Genes, Dominant, Chromosome Mapping, RNA-Binding Proteins, Pedigree, Female, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Carrier Proteins, Chromosomes, Human, Pair 17
Adult, Male, Adolescent, Genetic Linkage, Elucidation of hereditary disorders and their molecular diagnosis, DNA Mutational Analysis, Mutation, Missense, Erfelijke en verworven vitreo-retinale aandoeningen: experimenteel en klinisch onderzoek en behandeling., Polymerase Chain Reaction, Hereditary and acquired vitreo-retinal disorders: experimental and clinical research and treatment., Humans, RNA, Messenger, Child, Eye Proteins, Adaptor Proteins, Signal Transducing, DNA Primers, Genes, Dominant, Chromosome Mapping, RNA-Binding Proteins, Pedigree, Female, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Carrier Proteins, Chromosomes, Human, Pair 17
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