An assessment of the Apex microarray technology in genotyping patients with leber congenital amaurosis and early-onset severe retinal dystrophy

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 12, 2007, Pages 5684-5689

  Henderson, Robert H ^a,b,c   Waseem, Naushin ^b   Searle, Rowan ^b   Van Der Spuy, Jacqueline ^b   Russell Eggitt, Isabelle ^c   Bhattacharya, Shomi S ^b   Thompson, Dorothy A ^c   Holder, Graham E ^a   Cheetham, Michael E ^b   Webster, Andrew R ^a,b   Moore, Anthony T ^a,b,c  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Hospital for Children   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN AIPL1; PROTEIN CRB1; PROTEIN CRX; PROTEIN GUCY2D; PROTEIN LRAT; PROTEIN MERTK; PROTEIN RPE65; PROTEIN RPGRIP1; UNCLASSIFIED DRUG; AIPL1 PROTEIN, HUMAN; CARRIER PROTEIN; CELL SURFACE RECEPTOR; CONE ROD HOMEOBOX PROTEIN; CRB1 PROTEIN, HUMAN; EYE PROTEIN; GUANYLATE CYCLASE; GUANYLATE CYCLASE 1; HOMEODOMAIN PROTEIN; MEMBRANE PROTEIN; MERTK PROTEIN, HUMAN; NERVE PROTEIN; ONCOPROTEIN; PROTEIN; PROTEIN TYROSINE KINASE; RPE65 PROTEIN, HUMAN; RPGRIP1 PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN;

ARTICLE; CLINICAL TRIAL; COMPARATIVE STUDY; CONTROLLED STUDY; DNA MICROARRAY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; SINGLE NUCLEOTIDE POLYMORPHISM; BLINDNESS; CHILD; GENE EXPRESSION PROFILING; GENETICS; MUTATION; RETINA DEGENERATION;

BLINDNESS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; EYE PROTEINS; FEMALE; GENE EXPRESSION PROFILING; GENOTYPE; GUANYLATE CYCLASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CELL SURFACE; RETINAL DEGENERATION; TRANS-ACTIVATORS;

EID: 38549102063     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.07-0207     Document Type: Article

References (28)

1. Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol. 2004;49:379-398.
2. Hanein S, Perrault I, Gerber S, 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;23:306-317.
3. Perrault I, Hanein S, Gerber S, et al. Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. J Med Genet. 2003;40:e90.
4. Perrault I, Rozet JM, Calvas P, et al. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet. 1996;14:461-464.
5. Sohocki MM, Bowne SJ, Sullivan LS, et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet. 2000;24:79-83.
6. Marlhens F, Bareil C, Griffoin JM, et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 1997;17:139-141.
7. Gu SM, Thompson DA, Srikumari CR, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194-197.
8. Gerber S, Perrault I, Hanein S, et al. Complete exon-intron structure of the RPGR-interacting protein (IPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet. 2001;9:561-571.
9. Dryja TP, Adams SM, Grimsby JL, et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001; 68:1295-1298.
10. Freund CL, Wang QL, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet. 1998;18:311-312.
11. Jacobson SG, Cideciyan AV, Huang Y, et al. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci. 1998;39:2417-2426.
12. Banerjee P, Kleyn PW, Knowles JA, et al. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet. 1998;18:177-179.
13. Gu S, Lennon A, Li Y, et al. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. Lancet. 1998;351:1103-1104.
14. Lotery AJ, Jacobson SG, Fishman GA, et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol. 2001; 119:415-420.
15. Perrault I, Hanein S, Gerber S, et al. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. Am J Hum Genet. 2004;75:639-646.
16. Janecke AR, Thompson DA, Utermann G, et al. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet. 2004;36:850-854.
17. Thompson DA, Li Y, McHenry CL, et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet. 2001;28:123-124.
18. McHenry CL, Liu Y, Feng W, et al. MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. Invest Ophthalmol Vis Sci. 2004;45: 1456-1463.
19. den Hollander AI, Koenekoop RK, Yzer S, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006;79:556-561.
20. Dharmaraj SR, Silva ER, Pina AL, et al. Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genet. 2000;21:135-150.
21. Pastinen T, Kurg A, Metspalu A, Peltonen L, Syvanen AC. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 1997;7:606-614.
22. Shumaker JM, Metspalu A, Caskey CT. Mutation detection by solid phase primer extension. Hum Mutat. 1996;7:346-354.
23. Zernant J, Kulm M, Dharmaraj S, et al. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci. 2005;46:3052-3059.
24. Ito S, Nakamura M, Nuno Y, Ohnishi Y, Nishida T, Miyake Y. Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy. Invest Ophthalmol Vis Sci. 2004;45:1480-1485.
25. Yzer S, Leroy BP, De Baere E, et al. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006;47:1167-1176.
26. Jaakson K, Zernant J, Kulm M, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003;22:395-403.
27. Allikmets R. Leber congenital amaurosis: a genetic paradigm. Ophthalmic Genet. 2004;25:67-79.
28. Cremers FP, Kimberling WJ, Kulm M, et al. Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007; 44:153-160.