Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 9, 2013, Pages 6255-6261

  Sullivan, Lori S ^a   Bowne, Sara J ^a   Reeves, Melissa J ^b   Blain, Delphine ^b   Goetz, Kerry ^b   Difor, Vida N ^b   Vitez, Sally ^b   Wang, Xinjing ^b   Tumminia, Santa J ^b   Daiger, Stephen P ^a  

^a UNIVERSITY OF TEXAS   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

DNA sequencing; EyeGENE; Inherited retinal diseases; Mutation prevalences; Retinitis pigmentosa

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DNA EXTRACTION; DNA SEQUENCE; ETHNIC AND RACIAL GROUPS; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; IMPDH1 GENE; KLHL7 GENE; NATIONAL HEALTH ORGANIZATION; NATIONAL OPHTHALMIC DISEASE GENOTYPING AND PHENOTYPING NETWORK; NR2E3 GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRPF3 GENE; PRPF31 GENE; PRPF8 GENE; PRPH2 GENE; RETINITIS PIGMENTOSA; RHO GENE; RP1 GENE; RP2 GENE; RPGR GENE; STOP CODON; STRUCTURAL BIOINFORMATICS; TOPORS GENE;

DNA SEQUENCING; EYEGENE; INHERITED RETINAL DISEASES; MUTATION PREVALENCES; RETINITIS PIGMENTOSA;

ADULT; DNA; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 84884559802     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-12605     Document Type: Article

References (47)

1. Sieving PA, Collins FS. Genetic ophthalmology and the era of clinical care. JAMA. 2007;297:733-736.
2. Goetz KE, Reeves MJ, Tumminia SJ, Brooks BP. eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease. Curr Opin Ophthalmol. 2012;23:355-363.
3. Brooks BP, Macdonald IM, Tumminia SJ, et al. Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol. 2008;126:424-425.
4. Bowne SJ, Sullivan LS, Gire AI, et al. Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa (adRP). Mol Vis. 2008;14:922-927.
5. Churchill JD, Bowne SJ, Sullivan LS, et al. Mutations in the Xlinked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013;54: 1411-1416.
6. Friedman JS, Ray JW, Waseem N, et al. Mutations in a BTBKelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2009;84:792-800.
7. Gire AI, Sullivan LS, Bowne SJ, et al. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis. 2007;13:1970-1975.
8. Sullivan LS, Bowne SJ, Birch DG, et al. Prevalence of diseasecausing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006;47:3052-3064.
9. Abecasis GR, Altshuler D, Auton A, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061-1073.
10. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812-3814.
11. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
12. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576.
13. Kranich H, Bartkowski S, Denton MJ, et al. Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. Hum Mol Genet. 1993;2:813-814.
14. Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet. 1991;49:699-706.
15. Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990;343:364-366.
16. Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991;88:9370-9374.
17. Dryja TP, McGee TL, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990;323:1302-1307.
18. Macke JP, Davenport CM, Jacobson SG, et al. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet. 1993;53:80-89.
19. Fuchs S, Kranich H, Denton MJ, et al. Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994;3:1203.
20. Sung CH, Davenport CM, Hennessey JC, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991;88:6481-6485.
21. Andreasson S, Ehinger B, Abrahamson M, Fex G. A sixgeneration family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). Ophthalmic Paediatr and Genetics. 1992;13:145-153.
22. al-Maghtheh M, Inglehearn C, Lunt P, Jay M, Bird A, Bhattacharya S. Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. Hum Mutat. 1994;3:409-410.
23. Gal A, Apfelstedt-Sylla E, Janecke AR, Zrennert E. Rhodopsin mutations in inherited retinal dystrophies and dysfunctions. Prog Retin Eye Res. 1997;16:51-79.
24. Gal A, Artlich A, Ludwig M, et al. Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics. 1991;11:468-470.
25. Sohocki MM, Daiger SP, Bowne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17:42-51.
26. Farrar GJ, Kenna P, Jordan SA, et al. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics. 1992;14: 805-807.
27. Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Ophthalmology. 1994;101: 1409-1421.
28. Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991;354: 480-483.
29. Bowne SJ, Sullivan LS, Blanton SH, et al. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002;11:559-568.
30. Sullivan LS, Heckenlively JR, Bowne SJ, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet. 1999;22:255-259.
31. Bowne SJ, Daiger SP, Hims MM, et al. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1999;8:2121-2128.
32. Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999;22:248-254.
33. Ziviello C, Simonelli F, Testa F, et al. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J Med Genet. 2005;42:e47.
34. McKie AB, McHale JC, Keen TJ, et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet. 2001;10:1555-1562.
35. Coppieters F, Leroy BP, Beysen D, et al. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007;81:147-157.
36. Chakarova CF, Papaioannou MG, Khanna H, et al. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet. 2007;81:1098-1103.
37. Koenekoop RK, Loyer M, Hand CK, et al. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol. 2003;136:678-687.
38. 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.
39. Li N, Dai S, Zhang L, Mei H, Wang L. A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosa. Mol Genet Metab. 2011;102:488-493.
40. Thiadens AA, Phan TM, Zekveld-Vroon RC, et al. Clinical course, genetic etiology, and visual outcome in cone and conerod dystrophy. Ophthalmology. 2012;119:819-826.
41. Horn M, Humphries P, Kunisch M, et al. Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa. Hum Genet. 1992;90:255-257.
42. Grantham R. Amino acid difference formula to help explain protein evolution. Science. 1974;185:862-864.
43. Bowne SJ, Sullivan LS, Mortimer SE, et al. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006;47:34-42.
44. Daiger SP, Sullivan LS, Gire AI, Birch DG, Heckenlively JR, Bowne SJ. Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008;613:203-209.
45. Song J, Smaoui N, Ayyagari R, et al. High-throughput retinaarray for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci. 2011;52:9053-9060.
46. Bowne SJ, Sullivan LS, Koboldt DC, et al. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci. 2011;52:494-503.
47. Bowne SJ, Humphries MM, Sullivan LS, et al. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet. 2011;19:1074-1081.