Screening of the RPE65 gene in the Asian Indian patients with Leber congenital amaurosis

Ophthalmic Genetics

Volumn 29, Issue 2, 2008, Pages 73-78

  Mamatha, Gandra ^a   Srilekha, Sundaramurthy ^a   Meenakshi, Swaminathan ^b   Kumaramanickavel, Govindasamy ^a  

^a VISION RESEARCH FOUNDATION   (India)

^b MEDICAL RESEARCH FOUNDATION   (India)

Author keywords

Homozygous mutation; LCA; Protein analysis; RPE65; Silent mutation

Indexed keywords

LEUCINE; MUTANT PROTEIN; PROLINE;

ARTICLE; BIOINFORMATICS; CODON; CONTROLLED STUDY; DNA FLANKING REGION; DNA POLYMORPHISM; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INDIAN; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RPE65 GENE; SCREENING;

AMINO ACID SEQUENCE; BLINDNESS; CARRIER PROTEINS; COMPUTATIONAL BIOLOGY; EYE PROTEINS; FEMALE; GENETIC SCREENING; HUMANS; INDIA; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; RETINAL DEGENERATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 45849100515     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802008259     Document Type: Article

References (22)

1. Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194-197.
2. Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J Biol Chem. 1993;268:15751-15757.
3. Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, Chen N, Goletz P, Ma JX, Crouch RK, Pfeifer K. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet. 1998;20:344-351.
4. Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc. Natl. Acad. Sci. U. S. A. 1998;95:3088-3093.
5. Alstrom CH, Olson O. Heredo-retinopathia congenitalis monohybrida recessiva autosomalis. Hereditas. 1957;43:1-178.
6. Bemelmans AP, Kostic C, Crippa SV, Hauswirth WW, Lem J, Munier FL, Seeliger MW, Wenzel A, Arsenijevic Y. Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. PLoS Med. 2006;3:347.
7. Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001;28:92-95.
8. Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2000;41:4293-4299.
9. Redmond TM, Hamel CP. Genetic analysis of RPE65: From human disease to mouse model. Methods Enzymol. 2000;316:705-724.
10. Joseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty NS, Uthra S, Kumaramanickavel G. RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases. J Genet. 2002;81:19-23.
11. Bittles AH. The impact of consanguinity on the Indian population. J Hum Genet. 2002;8:45-51.
12. Kumaramanickavel G, Joseph B, Vidhya A, Arokiasamy T, Shridhara Shetty N. Consanguinity and ocular genetic diseases in South India: Analysis of a five-year study. Community Genet. 2002 5:182-185.
13. Takahashi Y, Chen Y, Moiseyev G, Ma JX. Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. J Biol Chem. 2006;281:21820-21826.
14. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 1997;17:139-141.
15. Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genet. 2000;21:135-150.
16. Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol. 2000;118:538-543.
17. Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Hum Mutat. 2001;18:164.
18. Sitorus RS, Lorenz B, Preising MN. Analysis of three genes in Leber congenital amaurosis in Indonesian patients. Vision Res. 2003;43:3087-3093.
19. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. 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.
20. Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci. 2005;46:3052-3059.
21. den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006;79:556-561.
22. Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci. 2007;48:4284-4290.