Genetic fine mapping of the gene for recessive Stargardt disease

Human Genetics

Volumn 98, Issue 4, 1996, Pages 500-504

  Hoyng, C B ^a   Poppelaars, F ^a   Van De Pol, T J R ^a   Kremer, H ^a   Pinckers, A J L G ^a   Deutman, A F ^a   Cremers, F P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CHROMOSOME 1P; CLINICAL ARTICLE; FEMALE; GENE MAPPING; HUMAN; HUMAN CELL; MALE; MARKER GENE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; STARGARDT DISEASE;

ALLELES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; COLOR PERCEPTION; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; LOD SCORE; MACULAR DEGENERATION; MALE; MIDDLE AGED; NETHERLANDS; PEDIGREE; POLYMORPHISM, GENETIC;

EID: 0029790616     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050247     Document Type: Article

References (27)

1. Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR (1995) A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet 57: 1351-1363
2. Bither PP, Berns LA (1988) Dominant inheritance of Stargardt's disease. J Am Optom Assoc 59: 112-117
3. Bowcock A, Osborne-Lawrence S, Barnes R, Weiss L, Dunn G (1992) Dinucleotide repeat polymorphism at the D1S167 locus. Hum Mol Genet 1: 138
4. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343: 364-366
5. Fishman GA (1976) Fundus flavimaculatus. Arch Ophthalmol 94: 2061-2067
6. Franceschetti A (1963) Über tapeto-retinale Degeneration im Kindesalter. In: Sautter H (ed) Entwicklung und Fortschritt in der Augenheilkunde. Enke, Stuttgart, pp 107-120
7. Gerber S, Rozet J-M, Bonneau D, Souied E, Camuzat A, Dufier JL, Amalric P, Weissenbach J, Munnich A, Kaplan J (1995) A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am J Hum Genet 56: 396-399
8. Green WR (1985) Primary pigmentary degeneration of the retina. In: Spencer WH (ed) Ophthalmic pathology: an atlas and textbook, 3rd edn. Saunders, Philadelphia, pp 1210-1220
9. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7: 246-339
10. 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 (1993) A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 5: 308-311
11. Klien BA, Krill AE (1967) Fundus flavimaculatus. Am J Ophthalmol 64: 3-23
12. Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CRS, Orth U, Oehlmann R, Gal A (1994) Missense rhodopsin mutation in a family with recessive RP. Nat Genet 8: 10-11
13. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37: 482-498
14. Lopez PF, Maumenee IH, Cruz Z de la, Green WR (1990) Autosomal-dominant fundus flavimaculatus. Ophthalmology 97: 798-809
15. Mansour AM (1992) Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica 205: 138-143
16. Matise TC, Perlin M, Chakravarti A (1994) Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nat Genet 6: 384-390
17. McKusick VA (1994) Mendelian inheritance in man, 11th edn. Johns Hopkins University Press, Baltimore
18. Noble KG, Carr RE (1979) Stargardt's disease and fundus flavimaculatus. Arch Ophthalmol 97: 1281-1285
19. Puech B, Hache JC, Turut P, Francois P (1989) X-shaped macular dystrophy with flavimaculatus flecks. Ophthalmologica 199: 146-157
20. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP (1992) A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1: 209-212
21. Stargardt K (1909) Über familiäre, progressive Degeneration in der Maculagegend des Auges. Graefes Arch Ophthalmol 71: 534-550
22. Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC (1994) Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 112: 765-772
23. The Utah Marker Development Group (1995) A collection of ordered tetranucleotide-repeat markers from the human genome. Am J Hum Genet 57: 619-628
24. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, Lathrop M (1992) A second-generation linkage map of the human genome. Nature 359: 794-801
25. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM (1993) Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol 111: 1531-1542
26. Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden J, Bhattacharya S, Fitzke F, Bird A (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 3: 213-218
27. Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Seidman CE (1994) A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 112: 759-764