Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis

PLoS ONE

Volumn 6, Issue 5, 2011, Pages

  Li, Lin ^a,b   Xiao, Xueshan ^a   Li, Shiqiang ^a   Jia, Xiaoyun ^a   Wang, Panfeng ^a   Guo, Xiangming ^a   Jiao, Xiaodong ^b   Zhang, Qingjiong ^a   Hejtmancik, J Fielding ^b  

^a SUN YAT SEN UNIVERSITY   (China)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN AIPL1; PROTEIN CEP290; PROTEIN CRB1; PROTEIN CRX; PROTEIN GUCY2D; PROTEIN IMPDH1; PROTEIN LCA5; PROTEIN LRAT; PROTEIN MERTK; PROTEIN RD3; PROTEIN RDH12; PROTEIN RPE65; PROTEIN RPGRIP1; PROTEIN SPATA7; PROTEIN TULP1; UNCLASSIFIED DRUG;

ALLELE; AMPLICON; ARTICLE; CHINESE; CONTROLLED STUDY; EXON; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; ASIAN; COST BENEFIT ANALYSIS; DNA SEQUENCE; ETHNOLOGY; GENE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE;

ASIAN CONTINENTAL ANCESTRY GROUP; COST-BENEFIT ANALYSIS; EXONS; GENES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; LEBER CONGENITAL AMAUROSIS; SEQUENCE ANALYSIS, DNA;

EID: 79955931576     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0019458     Document Type: Article

References (36)

1. Leber T, (1869) Uber retinitis pigmentosa und angeborene amaurose. Graefes Arch Klin Ophthalmol 15: 1-25.
2. den Hollander AI, Roepman R, Koenekoop RK, Cremers FP, (2008) Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 27: 391-419.
3. Cremers FP, van den Hurk JA, den Hollander AI, (2002) Molecular genetics of Leber congenital amaurosis. Hum Mol Genet 11: 1169-1176.
4. Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, et al. (1999) Leber congenital amaurosis. Mol Genet Metab 68: 200-208.
5. Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 14: 461-464.
6. den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, et al. (2001) Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet 69: 198-203.
7. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, et al. (1997) Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 17: 139-141.
8. Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, et al. (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 68: 1295-1298.
9. Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 24: 79-83.
10. den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, et al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 39: 889-895.
11. Swaroop A, Wang QL, Wu W, Cook J, Coats C, et al. (1999) Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 8: 299-305.
12. Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, et al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet 28: 123-124.
13. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, et al. (2004) 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 23: 306-317.
14. Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, et al. (2004) Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet 75: 639-646.
15. den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, et al. (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79: 556-561.
16. Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, et al. (2006) Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 79: 1059-1070.
17. Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, et al. (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet 84: 380-387.
18. Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, et al. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci 47: 34-42.
19. Gal A, Li Y, Thompson DA, Weir J, Orth U, et al. (2000) Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 26: 270-271.
20. Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, et al. (2001) Prediction of deleterious human alleles. Hum Mol Genet 10: 591-597.
21. Rozet JM PI, Gerber S, Ducroq D, Souied E, Munnich A, Kaplan J, (2000) Functional analyses of retGC1 missense mutations identified in Leber's congenital amaurosis. Investigative Ophthalmology & Visual Science 41: S533.
22. Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, et al. (2007) Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci 48: 4284-4290.
23. den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, et al. (2004) CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat 24: 355-369.
24. Bereta G, Kiser PD, Golczak M, Sun W, Heon E, et al. (2008) Impact of retinal disease-associated RPE65 mutations on retinoid isomerization. Biochemistry 47: 9856-9865.
25. Zhang Q, Li S, Guo X, Guo L, Xiao X, et al. (2001) Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype. Ophthalmic Genet 22: 89-96.
26. Wang P, Guo X, Zhang Q, (2007) Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation. Graefes Arch Clin Exp Ophthalmol 245: 1401-1402.
27. Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, et al. (2006) Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 47: 1167-1176.
28. Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, et al. (2007) Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. Invest Ophthalmol Vis Sci 48: 5653-5661.
29. Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, et al. (2007) Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat 28: 416.
30. Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, et al. (2008) Molecular characterization of Leber congenital amaurosis in Koreans. Mol Vis 14: 1429-1436.
31. Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, et al. (2009) Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci 50: 1336-1343.
32. McKibbin M, Ali M, Mohamed MD, Booth AP, Bishop F, et al. (2010) Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. Arch Ophthalmol 128: 107-113.
33. Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, et al. (2009) Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Mol Vis 15: 1781-1787.
34. Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol 129: 81-87.
35. Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci 46: 3052-3059.
36. Yoshida S, Yamaji Y, Yoshida A, Kuwahara R, Yamamoto K, et al. (2006) Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray. Mol Vis 12: 1558-1564.