Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Audo, Isabelle ^a,b,c,d,e   Bujakowska, Kinga ^a,b,c   Mohand Saïd, Saddek ^a,b,c,d   Lancelot, Marie Elise ^a,b,c   Moskova Doumanova, Veselina ^a,b,c   Waseem, Naushin H ^e   Antonio, Aline ^a,b,c,d   Sahel, José Alain ^a,b,c,d,e   Bhattacharya, Shomi S ^a,b,c,e   Zeitz, Christina ^a,b,c  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT ROD CONE DYSTROPHY; CLINICAL ARTICLE; COHORT ANALYSIS; DNA PURIFICATION; FAMILY HISTORY; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; HUMAN TISSUE; IN VIVO STUDY; MALE; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; POLYMERASE CHAIN REACTION; PRPF31 GENE; REFRACTION ERROR; RETINA MACULA EDEMA; RNA SPLICING; SLIT LAMP; SUBCAPSULAR CATARACT; VISUAL ACUITY; CASE CONTROL STUDY; DOMINANT GENE; FAMILY; FRAMESHIFT MUTATION; FRANCE; GENETICS; HETEROZYGOTE; MUTATION; PENETRANCE; PREVALENCE; RETINITIS PIGMENTOSA; REVIEW;

EYE PROTEIN; PRPF31 PROTEIN, HUMAN;

CASE-CONTROL STUDIES; EYE PROTEINS; FAMILY; FRAMESHIFT MUTATION; FRANCE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; MUTATION; PENETRANCE; PREVALENCE; RETINITIS PIGMENTOSA; RNA SPLICE SITES;

EID: 77957732576     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-145     Document Type: Article

References (31)

1. Birch DG, Fish GE. Rod ERGs in retinitis pigmentosa and cone-rod degeneration. Invest Ophthalmol Vis Sci 1987, 28:140-150.
2. Carter-Dawson LD, LaVail MM, Sidman RL. Differential effect of the rd mutation on rods and cones in the mouse retina. Invest Ophthalmol Vis Sci 1978, 17:489-498.
3. Cideciyan AV, Hood DC, Huang Y, Banin E, Li ZY, Stone EM, Milam AH, Jacobson SG. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci USA 1998, 95:7103-7108. 10.1073/pnas.95.12.7103, 22754, 9618546.
4. Milam AH, Li ZY, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 1998, 17:175-205. 10.1016/S1350-9462(97)00012-8, 9695792.
5. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006, 368:1795-1809. 10.1016/S0140-6736(06)69740-7, 17113430.
6. Audo I, Manes G, Mohand-Said S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, et al. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci 2010, 51:3687-3700. 10.1167/iovs.09-4766, 20164459.
7. Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 2001, 8:375-381. 10.1016/S1097-2765(01)00305-7, 11545739.
8. Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007, 125:151-158. 10.1001/archopht.125.2.151, 2580741, 17296890.
9. Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Mol Vis 2008, 14:1105-1113. 2426732, 18552984.
10. Lim KP, Yip SP, Cheung SC, Leung KW, Lam ST, To CH. Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. Arch Ophthalmol 2009, 127:784-790. 10.1001/archophthalmol.2009.112, 19506198.
11. Martinez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Milla E, Ayuso C, Garcia-Sandoval B, Beneyto M, Vilela C, Baiget M, et al. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2003, 44:2171-2177. 10.1167/iovs.02-0871, 12714658.
12. Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. Am J Ophthalmol 2005, 140:537-540. 10.1016/j.ajo.2005.02.050, 16139010.
13. Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006, 47:3052-3064. 10.1167/iovs.05-1443, 2585061, 16799052.
14. Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006, 47:4579-4588. 10.1167/iovs.06-0440, 2778205, 17003455.
15. Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2007, 48:1330-1334. 10.1167/iovs.06-0963, 17325180.
16. Al-Maghtheh M, Vithana E, Tarttelin E, Jay M, Evans K, Moore T, Bhattacharya S, Inglehearn CF. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. Am J Hum Genet 1996, 59:864-871. 1914817, 8808602.
17. Evans K, al-Maghtheh M, Fitzke FW, Moore AT, Jay M, Inglehearn CF, Arden GB, Bird AC. Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Br J Ophthalmol 1995, 79:841-846. 10.1136/bjo.79.9.841, 505271, 7488604.
18. McGee TL, Devoto M, Ott J, Berson EL, Dryja TP. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 1997, 61:1059-1066. 10.1086/301614, 1716046, 9345108.
19. Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C. A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Hum Mutat 2009, 30:1340-1347. 10.1002/humu.21071, 2753193, 19618371.
20. Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 2008, 118:1519-1531. 10.1172/JCI34211, 2262031, 18317597.
21. Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?. Invest Ophthalmol Vis Sci 2003, 44:4204-4209. 10.1167/iovs.03-0253, 14507862.
22. Wang L, Ribaudo M, Zhao K, Yu N, Chen Q, Sun Q, Wang L, Wang Q. Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. Am J Med Genet A 2003, 121A:235-239. 10.1002/ajmg.a.20224, 1579744, 12923864.
23. Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat 2006, 27:644-653. 10.1002/humu.20325, 16708387.
24. Bujakowska KM, Maubaret C, Chakarova CF, Tanimoto N, Beck SC, Fahl E, Humphries MM, Kenna P, Makarov E, Makarova O, Paquet-Durand F, Ekström PA, van Veen T, Leveillard T, Humphries P, Seeliger MW, Bhattacharya SS. Study of gene targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci 2009, 50:5927-5933. 10.1167/iovs.08-3275, 19578015.
25. Huranova M, Hnilicova J, Fleischer B, Cvackova Z, Stanek D. A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs. Hum Mol Genet 2009, 18:2014-2023. 10.1093/hmg/ddp125, 19293337.
26. Yuan L, Kawada M, Havlioglu N, Tang H, Wu JY. Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells. J Neurosci 2005, 25:748-757. 10.1523/JNEUROSCI.2399-04.2005, 2149905, 15659613.
27. Liu JY, Dai X, Sheng J, et al. Identification and functional characterization of a novel splicing mutation in RP gene PRPF31. Biochem Biophys Res Commun 2008, 367:420-426. 10.1016/j.bbrc.2007.12.156, 2712755, 18177735.
28. Xia K, Zheng D, Pan Q, et al. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol Vis 2004, 367(10):361-365.
29. Chakarova CF, Cherninkova S, Tournev I, et al. Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Mol Vis 2006, 12:909-914.
30. Kohn L, Bowne SJ, Sullivan LS, et al. Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance. Eur J Hum Genet 2009, 17:651-655. 10.1038/ejhg.2008.223, 2796252, 19050727.
31. Abu-Safieh L, Vithan EN, Mantel I, et al. A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Mol Vis 2006, 12:384-388.