637
Views
14
CrossRef citations to date
0
Altmetric
Mutation Report

Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

, , &
Pages 225-231 | Received 30 Sep 2011, Accepted 17 Nov 2011, Published online: 09 Jan 2012

REFERENCES

  • Allikmets R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997;17:122.
  • Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet 2000;67:487–491.
  • Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet 2004;12:1024–1032.
  • Molday LL, Rabin AR, Molday RS. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Am J Ophthalmol 2000;130:689.
  • Sun H, Nathans J. Stargardt’s ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet 1997;17:15–16.
  • Sun H, Smallwood PM, Nathans J. Biochemical defects in ABCR protein variants associated with human retinopathies. Nat Genet 2000;26:242–246.
  • Webster AR, Heon E, Lotery AJ. An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci 2001;42:1179–1189.
  • Jaakson K, Zernant J, Kulm M. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat 2003;22:395–403.
  • Rosenberg T, Klie F, Garred P, Schwartz M. N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. Mol Vis 2007;13:1962–1969.
  • Gerber S, Rozet JM, van de Pol TJ. Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics 1998;48:139–142.
  • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863–874.
  • Sunyaev S, Ramensky V, Koch I. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591–597.
  • Tavtigian SV, Deffenbaugh AM, Yin L. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006;43:295–305.
  • Maia-Lopes S, guirre-Lamban J, Castelo-Branco M. ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis. Mol Vis 2009;15:584–591.
  • Roberts LJ, Ramesar RS, Greenberg J. Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip. Arch Ophthalmol 2009;127:549–554.
  • Valverde D, Riveiro-Alvarez R, Bernal S. Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele. Mol Vis 2006;12;902–908.
  • Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003;49:853–860.
  • Vossen RH, Aten E, Roos A, den Dunnen JT. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 2009;30:860–866.
  • Audrezet MP, Dabricot A, Le MC, Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Mol Diagn 2008;10:424–434.
  • Passerini I, Sodi A, Giambene B. Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. Eye (Lond) 2010;24:158–164.
  • Duno M, Sveen ML, Schwartz M, Vissing J. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. Eur J Hum Genet 2008;16:935–940.
  • Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 2006;59:808–815.
  • Rivera A, White K, Stohr H. 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.
  • Wiszniewski W, et al. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet 2005;14;2769–2778.
  • Aguirre-Lamban J, Gonzalez-Aguilera JJ, Riveiro-Alvarez R. Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. Invest Ophthalmol Vis Sci 2011;52:6206–6212.
  • Simonelli F, Testa F, deCrecchio G. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest Ophthalmol Vis Sci 2000;41:892–897.
  • Eksandh L, Ekstrom U, Abrahamson M, Bauer B, Andreasson S. Different clinical expressions in two families with Stargardt’s macular dystrophy (STGD1). Acta Ophthalmol Scand 2001;79;524–530.
  • Allikmets R, Shroyer NF, Singh N. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805–1807.
  • Michaelides M, Chen LL, Brantley MA Jr. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull’s-eye maculopathy. Br J Ophthalmol 2007;91:1650–1655.
  • Downs K, Zacks DN, Caruso R. Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol 2007;125:252–258.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.