Article
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Human mutation - 1 Oct 2010
Coppieters Frauke, Casteels Ingele, Meire Françoise, De Jaegere Sarah, Hooghe Sally, van Regemorter Nicole, Van Esch Hilde, Matuleviciene Ausra, Nunes Luis, Meersschaut Valérie, Walraedt Sophie, Standaert Lieve, Coucke Paul, Hoeben Heidi, Kroes Hester Y, Vande Walle Johan, de Ravel Thomy, Leroy Bart P, De Baere Elfride
Abstract excerpt
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...
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