X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 9, 2000, Pages 2712-2721

  Sharon, D ^a   Bruns, G A P ^a   McGee, T L ^a   Sandberg, M A ^a   Berson, E L ^a   Dryja, T P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA;

AMINO ACID SEQUENCE; ARTICLE; ELECTRORETINOGRAPHY; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RETINA; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELDS; X CHROMOSOME;

EID: 0033854355     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Retinitis pigmentosa. The Friedenwald Lecture
2. Retinitis pigmentosa: Genetic percentages
3. Population genetic studies of retinitis pigmentosa
4. On the heredity of retinitis pigmentosa
5. Prevalence of retinitis pigmentosa in Maine
6. Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families
7. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
8. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families
9. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families
10. X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11
11. New genetic loci and gene mutations in X-linked retinal disease
12. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27
13. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
14. Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
15. Positional cloning of the gene for X-linked retinitis pigmentosa 2
16. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
17. Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene
18. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study
19. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa
20. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
21. X-linked retinitis pigmentosa: Functional phenotype of an RP2 genotype
22. Phenotype-genotype correlations in X linked retinitis pigmentosa
23. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype
24. Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
25. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa
26. Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa
27. RPGR transcription studied in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
28. SSCP analysis of long DNA fragments in low pH gel
29. Natural course of retinitis pigmentosa over a three-year interval
30. Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa
31. Improved splice site detection in Genie
32. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
33. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus
34. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
35. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa
36. The GTP-binding protein Ran/TC4 is required for protein import into the nucleus
37. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
38. Pathway leading to correctly folded beta-tubulin
39. Generation of GTP-bound Ran by RCC1 is required for chromatin-induced mitotic spindle formation