New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 3, 2000, Pages 892-897

  Simonelli, Francesca ^e   Testa, Francesco ^a   De Crecchio, Giuseppe ^b   Rinaldi, Ernesto ^e   Hutchinson, Amy ^c   Atkinson, Andrew ^d   Dean, Michael ^d   D'Urso, Michele ^a   Allikmets, Rando ^c  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e Eye Research Addition ^*

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; ITALY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; STARGARDT DISEASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HETERODUPLEX ANALYSIS; HUMANS; ITALY; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; ROD OUTER SEGMENTS; SEQUENCE ANALYSIS, DNA;

EID: 0034060144     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Bressler NM, Bressler SB, Fine SL Age-related macular degeneration. Sure Ophthalmol. 1988;32:375-413.
2. Klein R, Klein BE, Linton KL. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology. 1992;99:933-943.
3. Stargardt K. Uber familiare, progressive degeneration in der maculagegend des auges. Graefes Arch Ophthalmol. 1909;71:534-550.
4. 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, 1997a;15:236-246.
5. 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.
6. Cremers FP. van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-362.
7. Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997b;277:1805-1807.
8. Azarian SM, Travis GH. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 1997;409:247-252.
9. Dryja T, Briggs CE, Berson EL, et al. Science 1998. Available at http://sciencemag.org/cgi/content/full/279/5354/1107a
10. Dean M, Allikmets R, Shroyer NF, et al. Science 1998. Available at http://sciencemag.org/cgi/content/full/279/5354/1107a
11. Stone EM, Webster AR, Vandenburgh K, et al. Allelic variation in ABCR associated with Stargardt disease hut not age-related macular degeneration. Nat Genet. 1998;20:328-329.
12. Allikmets R and the International ABCR Screening Consortium Association of G196IE and D2177N variants in the ABCR gene with age-related macular degeneration [ARVO Abstract]. Inrest Ophthalmol Vis Sci. 1999;40(4):S775. Abstract nr 4089.
13. Rozet J-M, Gerber S, Souied E, et al. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet. 1998;6:291-295.
14. Lewis RA, Shroyer NF, Singh N, et al. Genotype/phenotype analysis of a photoreceptor-specific ABC transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999;64:422-434.
15. Maugeri A, van Driel MA, van de Pol DJ, et al 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. 1999;64:1024-1035.
16. Franceschetti A. A special form of tapetoretinal degeneration: fundus flavimaculatus. Trans Am Acad Ophthalmol Otolaryngol. 1965;69:1048-1053.
17. Marmor MF, Zrenner E. Standard for clinical electroretinography. 1994 update. Doc Ophthalmol. 1995;89:199-210.
18. Gass JD. Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment. 4th ed. St. Louis: Mosby; 1997:326-332.
19. Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age related maculopathy and age related macular degeneration. Surv Ophthalmol. 1995;39:367-374.
20. Vinding T. Age related macular degeneration. Macular changes, prevalence and sex ratio. Acta Ophthalmol. 1989;67:609-616.
21. Allikmets R, Wasserman WW, Hutchinson A, et al. Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene. 1998;215:111-122.
22. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 1989;86:2766-2770.
23. Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol 1999;117:504-510.