RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population

British Journal of Ophthalmology

Volumn 93, Issue 9, 2009, Pages 1151-1154

  Ruddle, J B ^a,b   Ebenezer, N D ^c   Kearns, L S ^a   Mulhall, L E ^b   Mackey, D A ^a,b   Hardcastle, A J ^c  

^a CENTRE FOR EYE RESEARCH AUSTRALIA   (Australia)

^b ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; EYE PROTEIN; RPGR PROTEIN, HUMAN;

ARTICLE; AUSTRALIA; FEMALE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MUTATION; NONSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; REGULATOR GENE; RETINA CONE; RETINA DEGENERATION; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA; ADOLESCENT; ADULT; EXON; GENETIC SCREENING; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; STOP CODON; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; GENETIC DISEASES, X-LINKED; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; RETINAL DEGENERATION; VICTORIA; YOUNG ADULT;

EID: 70249115599     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2008.153908     Document Type: Article

References (13)

1. Inglehearn CF. Molecular genetics of human retinal dystrophies. Eye 1998;12:571-579 (Pubitemid 28356667)
2. Dickinson P, Mulhall L. A survey of hereditary aspects of pigmentary retinal dystrophies. Aust N Z J Ophthalmol 1989;17:247-256 (Pubitemid 19262510)
3. 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 (Pubitemid 34533901)
4. 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 (Pubitemid 32983444)
5. 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 (Pubitemid 36378568)
6. Simunovic MP, Moore AT. The cone dystrophies. Eye 1998;12:553-565
7. Yang Z, Peachey NS, Moshfeghi DM, et al. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet 2002;11:605-611 (Pubitemid 34257497)
8. Brown J Jr, Kimura AE, Gorin MB. Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree. Ophthalmology 2000;107:1104-1110
9. Demirci FY, Rigatti BW, Wen G, et al. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet 2002;70:1049-1053 (Pubitemid 34259324)
10. Ebenezer ND, Michaelides M, Jenkins SA, et al. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci 2005;46:1891-1898.
11. Ayyagari R, Demirci FY, Liu J, et al. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 2002;80:166-171 (Pubitemid 36197959)
12. Walia S, Fishman GA, Swaroop A, et al. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol 2008;126:379-384
13. 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 (Pubitemid 37414225)