Advanced search
1 file | 993.91 KB Add to list

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

(2020) CLINICAL GENETICS. 98(1). p.74-79
Author
Organization
Abstract
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to be mediated by vascular endothelial growth factor (VEGF) signaling, a molecule encoded by the VEGFA gene. As early detection and treatment is essential to preserve vision, prioritization of patients at risk is crucial, but impossible because of wide phenotypic variability and a lack of genotype-phenotype correlations for PXE. This study aimed to validate the previously suggested association of five single nucleotide VEGFA variants (rs13207351, rs833061, rs699947, rs25648 and rs1413711) with a severe PXE retinopathy in an independent cohort. Direct Sanger sequencing was performed in 100 PXE patients, with a mild (56) or severe (44) PXE retinopathy. The inclusion criteria for severe retinopathy were a unilateral best-corrected visual acuity of VEGFA gene to be a modifier gene for the PXE retinopathy. Hereby, we provide the necessary evidence to implement these variants in ocular risk stratification and individualized patient follow-up.
Keywords
HOME, modifier gene, pseudoxanthoma elasticum, risk stratification, translational medicine, validation

Downloads

  • (...).pdf
    • full text (Published version)
    • |
    • UGent only
    • |
    • PDF
    • |
    • 993.91 KB

Citation

Please use this url to cite or link to this publication:

MLA
De Vilder, Eva, et al. “VEGFA Variants as Prognostic Markers for the Retinopathy in Pseudoxanthoma Elasticum.” CLINICAL GENETICS, vol. 98, no. 1, 2020, pp. 74–79, doi:10.1111/cge.13751.
APA
De Vilder, E., Hosen, M. J., Martin, L., De Zaeytijd, J., Leroy, B., Ebran, J.-M., … Vanakker, O. (2020). VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum. CLINICAL GENETICS, 98(1), 74–79. https://doi.org/10.1111/cge.13751
Chicago author-date
De Vilder, Eva, Mohammad Jakir Hosen, Ludovic Martin, Julie De Zaeytijd, Bart Leroy, Jean-Marc Ebran, Paul Coucke, Anne De Paepe, and Olivier Vanakker. 2020. “VEGFA Variants as Prognostic Markers for the Retinopathy in Pseudoxanthoma Elasticum.” CLINICAL GENETICS 98 (1): 74–79. https://doi.org/10.1111/cge.13751.
Chicago author-date (all authors)
De Vilder, Eva, Mohammad Jakir Hosen, Ludovic Martin, Julie De Zaeytijd, Bart Leroy, Jean-Marc Ebran, Paul Coucke, Anne De Paepe, and Olivier Vanakker. 2020. “VEGFA Variants as Prognostic Markers for the Retinopathy in Pseudoxanthoma Elasticum.” CLINICAL GENETICS 98 (1): 74–79. doi:10.1111/cge.13751.
Vancouver
1.
De Vilder E, Hosen MJ, Martin L, De Zaeytijd J, Leroy B, Ebran J-M, et al. VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum. CLINICAL GENETICS. 2020;98(1):74–9.
IEEE
[1]
E. De Vilder et al., “VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum,” CLINICAL GENETICS, vol. 98, no. 1, pp. 74–79, 2020.
@article{8672061,
  abstract     = {{Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to be mediated by vascular endothelial growth factor (VEGF) signaling, a molecule encoded by the VEGFA gene. As early detection and treatment is essential to preserve vision, prioritization of patients at risk is crucial, but impossible because of wide phenotypic variability and a lack of genotype-phenotype correlations for PXE. This study aimed to validate the previously suggested association of five single nucleotide VEGFA variants (rs13207351, rs833061, rs699947, rs25648 and rs1413711) with a severe PXE retinopathy in an independent cohort. Direct Sanger sequencing was performed in 100 PXE patients, with a mild (56) or severe (44) PXE retinopathy. The inclusion criteria for severe retinopathy were a unilateral best-corrected visual acuity of VEGFA gene to be a modifier gene for the PXE retinopathy. Hereby, we provide the necessary evidence to implement these variants in ocular risk stratification and individualized patient follow-up.}},
  author       = {{De Vilder, Eva and Hosen, Mohammad Jakir and Martin, Ludovic and De Zaeytijd, Julie and Leroy, Bart and Ebran, Jean-Marc and Coucke, Paul and De Paepe, Anne and Vanakker, Olivier}},
  issn         = {{0009-9163}},
  journal      = {{CLINICAL GENETICS}},
  keywords     = {{HOME,modifier gene,pseudoxanthoma elasticum,risk stratification,translational medicine,validation}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{74--79}},
  title        = {{VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum}},
  url          = {{http://dx.doi.org/10.1111/cge.13751}},
  volume       = {{98}},
  year         = {{2020}},
}

Altmetric
View in Altmetric
Web of Science
Times cited: