Article
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Human molecular genetics - 1 Aug 2018
Barny Iris, Perrault Isabelle, Michel Christel, Soussan Mickael, Goudin Nicolas, Rio Marlène, Thomas Sophie, Attié-Bitach Tania, Hamel Christian, Dollfus Hélène, Kaplan Josseline, Rozet Jean-Michel, Gerard Xavier
Abstract excerpt
CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS). Using panel-based molecular diagnosis testing for inherited retinal diseases, we identified two individuals with some preserved vision despite biallelism for presumably truncating CEP290 mutations. The first one carried a homozygous 1 base pair deletion in Exon 17, introducing...
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