Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

@inproceedings{Coppieters2010GeneticSO,
  title={Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes},
  author={Frauke Coppieters and Ingele Casteels and Françoise M. Meire and Sarah De Jaegere and Sally Hooghe and Nicole van Regemorter and Hilde van Esch and Au{\vs}ra Matulevi{\vc}ienė and Lu{\'i}s Nunes and Valerie Meersschaut and Sophie Walraedt and Lieve Standaert and Paul J Coucke and Heidi Hoeben and Hester Y. Kroes and Johan Vande Walle and Thomy de Ravel and Bart Peter Leroy and Elfride De Baere},
  booktitle={Human mutation},
  year={2010}
}
Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mutations in 69% of the cohort, with major involvement of CEP290 (30%). In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert… CONTINUE READING

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

  • AI den Hollander, RK Koenekoop, +11 authors FP. Cremers
  • Am J Hum Genet
  • 2006
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