Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19);Mutationen im ABCA4-Gen in einer familie mit Stargardtscher Erkrankung und Retinitis pigmentosa (STGD1/RP19)

Klinische Monatsblatter fur Augenheilkunde

Volumn 219, Issue 8, 2002, Pages 590-596

  Rudolph, Günther ^a,c   Kalpadakis, Petros ^a,c   Haritoglou, Christos ^a   Rivera, Andrea ^b   Weber, Bernhard H F ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

Homozygous and compound heterozygous mutations; Null alleles causing autosomal recessive retinitis pigmentosa; RP19; Stargardt's disease; STGD1

Indexed keywords

PROTEIN; PROTEIN STGD1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NULL ALLELE; PHENOTYPE; RETINITIS PIGMENTOSA; STARGARDT DISEASE; VISUAL SYSTEM EXAMINATION;

EID: 0036698193     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-34425     Document Type: Article

References (23)

1. Allikmets R, Shroyer NF, Singh N et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997; 277: 1805-1807
2. Allikmets R, Singh N, Sun H et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997b; 15: 236-246
3. Briggs C, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP. Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. IOVS 2001; 42: 2229-2236
4. Cremers FP, van de Pol DJ, van Driel M et al. Autosomal recessive retinitis pigmentosa and rod-cone dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 1998; 7: 355-362
5. Fishman GA, Stone EM, Grover S, Derlacki DJ, Hockey RR. Variation of clinical expression in patients with Stargardt dystrophy in sequence variations in the ABCR gene. Arch Ophthalmol 1999; 117: 504-510
6. Fodde R, Losekoot M. Mutation detection by denaturating gradient gel electrophoresis (DGGE). Hum Mutat 1994; 3: 83-94
7. Franceschetti A. A special form of tapetoretinal degeneration: fundus flavimaculatus. Trans Am Acad Ophthalmol Otolaryngol 1965; 69: 1048-1053
8. Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S et al. A gene for Stargardt' disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993; 5: 308-311
9. Krawczak M, Cooper DN. The human gene mutation data base. Trends Genet 1997; 13: 1221-1222
10. Liu D, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 1998; 26: 1396-1400
11. Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC. Phenotypic subtypes of Stargardt's macular dystrophy-fundus flavimaculatus. Arch Ophthalmol 2001; 119: 359-369
12. Martinez-Mir A, Paloma E, Allikmets R et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 1998; 18: 11-12
13. Maugeri A, Klevering BJ, Rohrschneider K et al. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet 2000; 67: 960-966
14. Molday LL, Rabin AR, Molday RS. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet 2000; 25: 257-258
15. Orita M, Iwahana H, Kanzawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DANN by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-2770
16. Paloma E, Martinez-Mir A, Vilageliu L, Gonzalez-Duarte R, Balcells S. Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. Hum Mut 2001; 17: 504-510
17. Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T,Jurklies B, Lorenz B, Scholl HPN, Apfelstedt-Sylla E, Weber BHF. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet 2000; 67: 800-813
18. Rozet JM, Gerber S, Ghazi I et al. 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 1999; 36: 447-451
19. Rozet JM, Gerber S, Souied E, Perrault I, Chatelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. EurJ Hum Genet 1998; 6: 291-295
20. Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Null missense ABCR (ABCA4) mutations in a family with Stargardt's disease and retinitis pigmentosa. IOVS 2001; 42: 2757-2761
21. Stargardt K. Über familiäre, progressive Degeneration in der Makulagegend des Auges. Graefe's Arch Clin Exp Ophthalmol 1909; 71: 534-550
22. Webster AR, Heon E, Lotery AJ et al. An analysis of allelic variation in the ABCA4 gene. IOVS 2001; 42: 1179-1189
23. Wenig J, Mata NL, Azarian SM, Tzekow RT, Birch DG, Travis GH. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 1999; 98: 13-23