A population-based epidemiological and genetic study of X-linked retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 9, 2007, Pages 4012-4018

  Prokisch, Holger ^a,b   Hartig, Monika ^b   Hellinger, Rosa ^b   Meitinger, Thomas ^a,b   Rosenberg, Thomas ^c  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ANALYTIC METHOD; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETICS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOPIA; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; RETINA PIGMENTOSA 2 GENE; RETINA PIGMENTOSA GTPASE REGULATOR GENE; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELD; ALTERNATIVE RNA SPLICING; DENMARK; EPIDEMIOLOGY; GENETIC SCREENING; HETEROZYGOTE; INFANT; MIDDLE AGED; NEWBORN; PRESCHOOL CHILD; PREVALENCE; REGISTER; X CHROMOSOME LINKED DISORDER;

EYE PROTEIN; MEMBRANE PROTEIN; RP2 PROTEIN, HUMAN; RPGR PROTEIN, HUMAN; SIGNAL PEPTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; DENMARK; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY, MOLECULAR; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PHENOTYPE; PREVALENCE; REGISTRIES; RETINITIS PIGMENTOSA;

EID: 35148823131     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.07-0071     Document Type: Article

References (38)

1. Haim M, Holm NV, Rosenberg T. Prevalence of retinitis pigmentosa and allied disorders in Denmark. I Main results. Acta Ophthalmol (Copenh). 1992;70:178-186.
2. Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980;32:223-235.
3. Bunker CH, Berson EL, Bromley WC, et al. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97:357-365.
4. Sommer G, Gizycki Rv. Erbgang und Erfolg genetischer Beratung in 169 Familien mit Retinopathia pigmentosa. Klin Monatsbl Augenheilkd. 1983;183:395-396.
5. Ammann F, Klein D, Franceschetti A. Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. J Neurol Sci. 1965;2:183-196.
6. Fishman GA. Retinitis pigmentosa: genetic percentages. Arch Ophthalmol. 1978;96:822-826.
7. Pearlman JT. Mathematical models of retinitis pigmentosa: a study of the rate of progress in the different genetic forms. Trans Am Ophthalmol Soc. 1979;77:643-656.
8. Dickinson P, Mulhall L. A survey of hereditary aspects of pigmentary retinal dystrophies. Aust NZ J Ophthalmol. 1989;17:247-256.
9. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982;66:405-416.
10. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet. 1987;24:584-588.
11. Haim M. Retinitis pigmentosa: problems associated with genetic classification. Clin Genet. 1993;44:62-70.
12. Haim M. Prevalence of retinitis pigmentosa and allied disorders in Denmark III. Hereditary pattern. Acta Ophthalmol (Copenh). 1992;70:615-624.
13. Rozet JM, Perrault I, Gigarel N, et al. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J Med Genet. 2002;39:284-285.
14. Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol. 1975;59:177-199.
15. Souied E, Segues B, Ghazi I, et al. Severe manifestations in carrier females in X linked retinitis pigmentosa. J Med Genet. 1997;34:783-797.
16. Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996;13:35-42.
17. Schwahn U, Lenzner S, Dong J, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998;19:327-332.
18. Breuer DK, Yashar BM, Filippova E, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002;70:1545-1554.
19. Bader I, Brandau O, Achatz H, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci. 2003;44:1458-1463.
20. Sharon D, Sandberg MA, Rabe VW, et al. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73:1131-1146.
21. Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000;25:462-466.
22. Roepman R, van Duijnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet. 1996;5:1035-1041.
23. Kirschner R, Rosenberg T, Schultz-Heienbrok R, et al. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet. 1999;8:1571-1578.
24. Rosenberg T, Schwahn U, Feil S, Berger W. Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). Ophthalmic Genet. 1999;20:161-172.
25. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002(233):1-34.
26. Warburg M, Simonsen SE. Sex-linked recessive retinitis pigmentosa. A preliminary study of the carriers. Acta Ophthalmol (Copenh). 1968;46:494-499.
27. Larsen M, Krogsaa B, Warburg M, et al. Carriers of X-linked retinitis pigmentosa: a fluorophotometric determination of the permeability of the blood-retinal barrier. Ophthalmic Paediatr Genet. 1986;7:21-28.
28. Friedrich U, Warburg M, Kruse TA, Andreasson S. X-linked retinitis pigmentosa: new map studies of XLRP2, and a possible human centromere effect. Hum Genet. 1992;88:683-687.
29. Friedrich U, Warburg M, Jorgensen AL. X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation? Hum Genet. 1993;92:359-363.
30. Warburg M. Random inactivities of the X chromosome in intermediate X-linked retinitis pigmentosa: two hypotheses. Trans Ophthalmol Soc UK. 1971;91:553-560.
31. Grover S, Fishman GA, Anderson RJ, Lindeman M. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology. 2000;107:386-396.
32. Pelletier V, Jambou M, Delphin N, et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat. 2007;28:81-91.
33. Chapple JP, Hardcastle AJ, Grayson C, et al. Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. Hum Mol Genet. 2000;9:1919-1926.
34. Evans RJ, Hardcastle AJ, Cheetham ME. Focus on molecules: X-linked retinitis pigmentosa 2 protein, RP2. Exp Eye Res. 2006;82:543-544.
35. Schwahn U, Paland N, Techritz S, et al. Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Hum Mol Genet. 2001;10:1177-1183.
36. Bartolini F, Bhamidipati A, Thomas S, et al. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. J Biol Chem. 2002;277:14629-14634.
37. Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet. 1997;51:314-321.
38. Zito I, Downes SM, Patel RJ, et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003;40:609-615.