Screening of SPATA7 in patients with leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 6, 2011, Pages 3032-3038

  Mackay, Donna S ^a   Ocaka, Louise A ^a   Borman, Arundhati D ^a,b   Sergouniotis, Panagiotis I ^a,b   Henderson, Robert H ^b   Moradi, Phillip ^b   Robson, Anthony G ^a,b   Thompson, Dorothy A ^c,d   Webster, Andrew R ^a,b   Moore, Anthony T ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PHOTORECEPTOR INNER SEGMENT; PHOTORECEPTOR OUTER SEGMENT; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA FOVEA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPATA7 GENE;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENETIC TESTING; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 79955949872     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-7025     Document Type: Article

References (34)

1. Leber T. Retinitis pigmentosa und angeborene amaurose. Albert von Graefes Arch Ophthalmol. 1869;15:1-25.
2. Heckenlively JR, Foxman SG, Parelhoff ES. Retinal dystrophy and macular coloboma. Doc Ophthalmol. 1988;68:257-271.
3. Foxman S, Heckenlively J, Bateman J, Wirtschafter J. Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol.1985;103:1502-1506.
4. Franceschetti A, Dieterle P. Diagnostic and prognostic importance of the electroretinalgram in tapetoretinal degeneration with reduction of the visual field and hemeralopia. Confin Neurol. 1954;14: 184-186.
5. Perrault I, Rozet J-M, Calvas P, Gerber S, Camuzat A, Dollfus H. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet. 1996;14:461-464.
6. 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.
7. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C. Mutations in REP65 cause Leber's congenital amaurosis. Nat Genet. 1997;17:139-141.
8. Dryja T, Adams S, Grimsby J, et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001;68: 1295-1298.
9. Freund CL, Wang Q-L, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet. 1998;18:311-312.
10. 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.
11. den Hollander AI, Heckenlively JR, van den Born LI, et al. 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. 2001;69:198-203.
12. 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.
13. 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.
14. den Hollander AI, Koenekoop RK, Mohamed MD, et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007;39:889-895.
15. Wang H, den Hollander AI, Moayedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009;84:380-387.
16. Thompson DA, Li Y, McHenry CL, et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with earlyonset severe retinal dystrophy. Nat Genet. 2001;28:123-124.
17. Gal A, Li Y, Thompson DA, et al. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet. 2000;26:270-271.
18. Estrada-Cuzcano A, Koenekoop RK, Coppieters F, et al. IQCB1 Mutations in patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011;52;834-839.
19. Keen TJ, Mohamed MD, McKibbin M, et al. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. Eur J Hum Genet. 2003;11:420-423.
20. Stockton DW, Lewis RA, Abboud EB, et al. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet. 1998; 103:328-333.
21. Li Y, Wang H, Peng J, et al. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009;50:1336-1343.
22. Perrault I, Sylvain H, Xavier G, et al. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2010;31:E1241-E1250.
23. Zhang X, Liu H, Zhang Y, et al. A novel gene, RSD-3/HSD-31, encodes a meiotic-related protein expressed in rat and human testis. J Mol Med. 2003;81:380-387.
24. Mammalian Gene Collection (MGC) Program Team. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002;99: 16899-16903.
25. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV Standard for full-field clinical electroretinography: 2008 update. Doc Ophthalmol. 2009;118:69-77.
26. Holder GE, Brigell MG, Hawlina M, et al. ISCEV standard for clinical pattern electroretinography: 2007 update. Doc Ophthalmol. 2007; 114:111-116.
27. Flitcroft DI, Adams GGW, Robson AG, Holder GE. Retinal dysfunction and refractive errors: an electrophysiological study of children. Br J Ophthalmol. 2005;89:484-488.
28. Kriss A. Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode. Int J Psychophysiol. 1994;16:137-146.
29. Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat. 2006;27:1041-1046.
30. Hubbard TJP, Aken BL, Beal K, et al. Ensembl 2007. Nucleic Acids Res. 2007;35:D610-D617.
31. Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006;14:1074-1081.
32. Lobley A, Sadowski MI, Jones DT. pGenTHREADER and pDomTHREADER: new methods for improved protein fold recognition and superfamily discrimination. Bioinformatics. 2009;25:1761-1767.
33. Scholl HPN, Chong NHV, Robson AG, Holder GE, Moore AT, Bird AC. Fundus autofluorescence in patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2004;45:2747-2752.
34. Robson A, Michaelides M, Saihan Z, et al. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol. 2008;116:79-89.