Rpgrip aus
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ctctt gagca ttttc gtata ggcag ctgat gccca ttctt tatgt tatca tgcat ccagt ctttt ttttt ttttt gagaa ctcgt aaaag catat ccgtc gacta cgggt aagaa ataca atagt acgta ggtca gaaaa aaaaa aaaaa IVS 23 acgtt atctt tgtgg gctat tttcc aactc actcc tatcc ccatt cctaa acatg ctatg ttctt cctga cctcc tgcaa tagaa acacc cgata aaagg ttgag tgagg atagg ggtaa ggatt tgtac gatac aagaa ggact ggagg atgcc atttg tatgt gcaca gggaa aatcc actta agact tttct ggtga tttct ccaga aatcc tttcc aattt tacgg taaac ataca cgtgt ccctt ttagg tgaat tctga aaaga ccact aaaga ggtct ttagg aaagg ttaaa gtcca ttctg gtgca gatgc ctcgt tatgt cccca aagca acttg tgctt ccatt tatta tatag cacct ataca caggt aagac cacgt ctacg gagca ataca ggggt ttcgt tgaac acgaa ggtaa ataat atatc gtgga tatgt ctata ccatt ttcct ttctc cttca ctaga ttgag tcctc ttatg aaatg ggtaa tttca ttcat ttagc atccc gatat ggtaa aagga aagag gaagt gatct aactc aggag aatac tttac ccatt aaagt aagta aatcg taggg (27) t | cagta cctaa cctga caaat accaa gtatc aaagt gttca actga gtgat gctgt ttttt tccct ttccc aacag gtcat ggatt ggact gttta tggtt catag tttca caagt tgact cacta cgaca aaaaa aggga aaggg ttgtc T=Ile (26) | T=Ile (2) 3750 3765 | | 3795 3810 TT GTT AGC CCT GAA GAT CTG GCT ACC CCA ATA GGA AGG CTG AAG GTT TCC CTT CAA GCA GCT GCT AA CAA TCG GGA CTT CTA GAC CGA TGG GGT TAT CCT TCC GAC TTC CAA AGG GAA GTT CGT CGA CGA Ile Val Ser Pro Glu Asp Leu Ala Thr Pro Ile Gly Arg Leu Lys Val Ser Leu Gln Ala Ala Ala I V S P E D L A T P I G R L K V S L Q A A A 1249 1255 1260 1265 1270 del (1) 3825 |-|3840 3855 3861 3871 3881 GTC CTC CAT GCT ATT TAC AAG GAG ATG ACT GAA GAT TTG TTT TCA TGA aggaa caagt gctat tccaa CAG GAG GTA CGA TAA ATG TTC CTC TAC TGA CTT CTA AAC AAA AGT ACT tcctt gttca cgata aggtt Val Leu His Ala Ile Tyr Lys Glu Met Thr Glu Asp Leu Phe Ser ter V L H A I Y K E M T E D L F S X 1275 1280 1285 1287
tctaa aagtc tctga gggaa ccata gtaaa aagtc tctta taaag ttagc ttgct ataac atgaa tttgg tttac agatt ttcag agact ccctt ggtat cattt ttcag agaat atttc aatcg aacga tattg tactt aaacc aaatg
tgtga tgtct agtgt ctctc aatct aatga tgaaa gttta gaatg atgaa agttt cattt gtaaa actag ctagc acact acaga tcaca gagag ttaga ttact acttt caaat cttac tactt tcaaa gtaaa cattt tgatc gatcg
taaag gcatt tttct ccagt acctt agcac tttac caggc aggaa gcagg cttgc tttca agaac tgaaa atgaa atttc cgtaa aaaga ggtca tggaa tcgtg aaatg gtccg tcctt cgtcc gaacg aaagt tcttg acttt tactt
cggtc acagg tgaat ttaca aaaac aaaca acaaa aaaaa cccag tttat tcatc tttta gttct tccaa aattg gccag tgtcc actta aatgt ttttg tttgt tgttt ttttt gggtc aaata agtag aaaat caaga aggtt ttaac
aaaat atcaa gtcct actgc taagg agaaa aaaca aacaa acata aaatc cggga cccct ccccc cttct tctct tttta tagtt cagga tgacg attcc tcttt tttgt ttgtt tgtat tttag gccct gggga ggggg gaaga agaga
taaag tcaca gagca cggaa ggaac tgcag tggga caggt gggtg cagag aacca gaagg ggagg atggc aagat atttc agtgt ctcgt gcctt ccttg acgtc accct gtcca cccac gtctc ttggt cttcc cctcc taccg ttcta
aaact cccca aatac ttgaa aagct gttca acaga aactg tgata aatac aggac aatgc aagac aaagt taaaa tttga ggggt ttatg aactt ttcga caagt tgtct ttgac actat ttatg tcctg ttacg ttctg tttca atttt
(2) = [2] (3) = [3] (4) = [4] (5) = [5] (6) = [6] (7) = [7] (8) = [8] (9) = [9] (10) = [10] (11) = [11] (12) = [12] (13) = [13] (14) = [14] (15) = [15] (16) = [16] (17) = [17] (18) = [18] (19) = [19] (20) = [20] (21) = [21] (22) = [22] (23) = [23] (24) = [24] (25) = [25] (26) = [26] (27) = [27]
References 1 Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet 2001; 9(8):561-571 2 Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T et al. Null RPGRIP1 alleles in patients with leber congenital amaurosis. Am J Hum Genet 2001; 68(5):1295-1298 3 Roepman R, Bernoud-Hubac N, Vink C, Ropers HH, Berger W, Ferreira P et al. Identification and characterization of a gene encoding transport-like RPGR-interacting proteins (RPGRIPs) and analysis of its involvement in retinal dystrophies. Am J Hum Genet 2000; 67(4):412 4 Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet 2003; 40(8):616-619 5 Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D et al. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23(4):306-317 6 Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS. Molecular characterization of Leber congenital amaurosis in Koreans. Mol Vis 2008; 14:1429-36.:1429-1436 7 Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN et al. Genotyping microarray (disease chip) for leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci 2005; 46(9):3052-3059 8 Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI et al. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010; 117(6):1190-1198 9 McKibbin M, Ali M, Mohamed MD, Booth AP, Bishop F, Pal B et al. Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. Arch Ophthalmol 2010; 128(1):107-113 10 Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, vila-Fernandez A et al. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. Invest Ophthalmol Vis Sci 2007; 48(12):5653-5661 11 Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ et al. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology 2007; 114(5):895-898 12 Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007; 144(6):791-811 13 Henderson RH, Waseem N, Searle R, van der SJ, Russell-Eggitt I, Bhattacharya SS et al. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Invest Ophthalmol Vis Sci 2007; 48(12):5684-5689 14 Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ et al. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. J Med Genet 2005; 42(11):e67 15 Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Evaluation of genotype-phenotype associations in Leber congenital amaurosis. Retina 2005; 25(7):919-929 16 Fakhratova M. Identification of a novel LCA6 mutation in an Emirati family. Ophthalmic Genet 2013; 34(4):234-237 17 Fernandez-Martinez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH et al. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet 2011; 19(4):445-451 18 Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J et al. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS ONE 2013; 8(6):e65546 19 Verma A, Perumalsamy V, Shetty S, Kulm M, Sundaresan P. Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients. PLoS One 2013; 8(9):e73172 20 Khan AO, bu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. The RPGRIP1-related retinal phenotype in children. Br J Ophthalmol 2013; 97(6):760-764 21 Li L, Xiao X, Li S, Jia X, Wang P, Guo X et al. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One 2011; 6(5):e19458 22 Preising MN, Paunescu K, Friedburg C, Lorenz B. Genetische und klinische Heterogenität bei LCA-Patienten : Das Ende der Einheitlichkeit. Ophthalmologe 2007; 104(6):490-498 23 Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS. LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. Ophthalmic Genet 2009; 30(1):54-55 24 Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M et al. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res 2013; 23(2):236-247 25 Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C et al. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One 2013; 8(11):e78496 26 Coppieters F, De WB, Lefever S, De ME, De RN, Van CC et al. Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis. Genet Med 2012; 14(6):576-585 27 Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K et al. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet 2013; 50(10):674-688 Yüklə 230,17 Kb. Dostları ilə paylaş:
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