The ABCR gene: A major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly

Molecular Genetics and Metabolism

Volumn 68, Issue 2, 1999, Pages 310-315

  Rozet, Jean Michel ^a   Gerber, Sylvie ^a   Souied, Eric ^a,b   Ducroq, Dominique ^a   Perrault, Isabelle ^a   Ghazi, Imad ^a   Soubrane, Gisèle ^b   Coscas, Gabriel ^b   Dufier, Jean Louis ^a   Munnich, Arnold ^a   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE MUTATION; GENETIC HETEROGENEITY; MISSENSE MUTATION; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; SHORT SURVEY; STARGARDT DISEASE; VISUAL DISORDER;

EID: 0032757539     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2925     Document Type: Article

References (38)

1. Stargardt K. Uber familiäre, progressive degeneration under makulagegend des augen. Albrecht von Graefes Arch Ophthalmol. 71:1909;534-550.
2. Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier J L. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet. 85:1990;635-642.
3. Kaplan J, Gerber S, Larget-Piet D, Rozet J M, Dollfus H, Dufier J L, Odent S, Postel-Vinay A, Janin N, Briard M L, Frézal J, Munnich A. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nature Genet. 5:1993;308-311.
4. Rozet J M, Gerber S, Perrault I, Camuzat A, Calvas P, Viegas-Pequignot E, Molina-Gomez D, Le Paslier D, Chumakov I, Munnich A, Kaplan J. Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). Genomics. 36:1996;554-556.
5. Franceschetti A, François J. Fundus flavimaculatus. Arch Ophthalmol. 25:1965;505-530.
6. Welever R G. Stargardt's macular dystrophy. Arch Ophthalmol. 112:1994;752-754.
7. Gerber S, Rozet J M, Bonneau D, Souïed E, Camuzat A, Dufier J L, Amalric P, Weissenbech J, Munnich A, Kaplan J. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am J Hum Genet. 56:1995;396-399.
8. Allikmets R, Singh N, Sun H, Shroyer N F, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson K L, Lewin R A, Nathan J, Leppert M, Dean M, Lupski J R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15:1997;236-246.1.
9. Rozet, J, M, Gerber, S, Souied, E, et al., Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies, Eur J Hum Genet, submitted for publication.
10. Maugeri A, van Driel M A, van de Pol D J, Klevering B J, van Haren F J, Tijmes N, Bergen A A, Rohrschneider K, Blankenagel A, Pinckers A J, Dahl N, Brunner H G, Deutman A F, Hoyng C B, Cremers F P. The 2588G → C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt Disease. Am J Hum Genet. 64:April 1999;1024-1035.
11. Lewis R A, Shroyer N F, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski J R, Leppert M, Dean M. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 64:February 1999;422-434.
12. Cremers F P, van de Pol D J, van Driel M, den Hollander A I, van Haren F J, Knoers N V, Tijmes N, Bergen A A, Rohrschneider K, Blankenagel A, Pinckers A J, Deutman A F, Hoyng C B. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 7:March 1998;355-362.
13. Martinez-Mir A, Paolma E, Allikmets R. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genet. 18:1998;11-12.
14. Allikmets R, Shroyer N F, Singh N. Mutations of the Stargardt disease gene (ABCR) in age related macular degeneration. Science. 277:1997;1805-1807.
15. Souied, E, Ducroq, D, Rozet, J, M, Gerber, S, Perrault, I, Sterkers, M, Benhamou, N, Munnich, A, Coscas, G, Soubrane, G, Kaplan, J, A novel ABCR nonsense mutation responsible for late onset fundus flavimaculatus, Invest Ophthalmol Vis Sci, in press.
16. Hyman. Epidemiology of eye diseases in the elderly. Eye. 1:1987;330-341.
17. Sur Ophthalmol. 39:1995;367-374.
18. Delcourt C, Diaz J L, Ponton-Sanchez A, Papoz L. Smoking and age-related macular degeneration. Arch Ophthalmol. 116:August 1998;1031-1035.
19. Smith W, Mitchell P, Leeder S R, Wang J J. Plasma fibrinogen levels, other cardiovascular risk factors, and age-related maculopathy: The Blue Mountains Eye Study. Arch Ophthalmol. 116:May 1998;583-587.
20. Meyers S M, Greene T, Gutman F A. A twin study of age-related macular degeneration. Am J Ophthalmol. 120:December 1995;757-766.
21. Heiba I M, Elston R C, Klein B E, Klein R. Sibling correlations and segregation analysis of age-related maculopathy: The Beaver Dam Eye Study. Genet Epidemiol. 11:1994;51-67.
22. Seddon J M, Ajani U A, Mitchell B D. Familial aggregation of age-related maculopathy. Am J Ophthalmol. 123:February 1997;199-206.
23. Souied E H, Benlian P, Amouyel P, Feingold J, Lagarde J, Munnich A, Kaplan J, Coscas G, Soubrane G. The e4 allele of the apoE gene has a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol. 125:1998;353-359.
24. Klein M L, Schultz D W, Edwards A, Matise T C, Rust K, Berselli C B, Trzupek K, Weleber R G, Ott J, Wirtz M K, Acott T S. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 116:August 1998;1082-1088.
25. Rozet J-M, Gerber S, Perrault I, Calvas P, Souied E, Chatelin S, Viegas-Pequignot E, Molina-Gomez D, Munnich A, Kaplan J. Structure and refinement of the physical mapping of the gamma-glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1pp22. Cytogenet Cell Genet. 82:1998;91-94.
26. Gerber S, Rozet J M, Van de Pol T JR. Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics. 48:1998;139-142.
27. Hayashi K, Yandell D W. How sensitive is PCR-SSCP. Hum Mut. 2:1993;338-346.
28. Rozet J M, Gerber S, Ducroq D, Ghazi I, Souied E, Kaplan J. Extensive screening of the ABCR gene in a large panel of French patients affected with different retinal disorders. Invest Ophthalmol Vis Sci. 40:1999;A4087.
29. Dryja T P, Briggs C E, Berson E L. ABCR gene and age-related macular degeneration. Science. 279:1998;1107a.
30. Stone E M, Webster A R, Vandenburgh K. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nature Genet. 20:1998;328-329.
31. De la Paz M A, Pericak-Vance M A, Haines J L, Seddon J M. Phenotypic heterogeneity in families with age-related macular degeneration. Am J Ophthalmol. 124:September 1997;331-343.
32. Shroyer N F, Lewis R A, Allikmets R, Singh N, Dean M, Leppert M, Lupski J R. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial. Vision Res. 39:July 1999;2537-2544.
33. Souied, E, H, Ducroq, D, Gerber, S, Ghazi, I, Rozet, J, M, Perrault, I, Cabot, A, Munnich, A, Dufier, J, L, Coscas, G, Soubrane, G, Kaplan, J, AMD in Stargardt's patients relatives, clinical features and genetic study, Am J Ophthalmol, in press.
34. Martinez-Mir A. A new locus for autosomal recessive pigmentosa (RP 19) maps to 1p13-1p21. Genomics. 40:1997;142-146.
35. Rozet J-M, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier J-L, Munnich A, Kaplan J. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: Evidence of clinical heterogeneity at this locus. J Med Genet. 36:1999;447-451.
36. Allikmets R, Gerrard B, Hutchinson A, Dean M. Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database. Hum Mol Genet. 5:1996;1649-1655.
37. Sun H, Molday R S, Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem. 274:March 19, 1999;8269-8281.
38. Weng J, Mata N L, Azarian S M, Tzekov R T, Birch D G, Travis G H. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell. 98:July 9, 1999;13-23.