Article
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Human mutation - 1 Sept 2022
Coursimault Juliette, Rovelet-Lecrux Anne, Cassinari Kévin, Brischoux-Boucher Elise, Saugier-Veber Pascale, Goldenberg Alice, Lecoquierre François, Drouot Nathalie, Richard Anne-Claire, Vera Gabriella, Coutant Sophie, Quenez Olivier, Rolain Marion, Bonnet Céline, Bronner Myriam, Lecourtois Magalie, Nicolas Gaël
Abstract excerpt
Cornelia de Lange syndrome (CdLS) is a clinically-recognizable rare developmental disorder. About 70% of patients carry a missense or loss-of-function pathogenic variant in the NIPBL gene. We hypothesized that some variants in the 5'-untranslated region (UTR) of NIPBL may create an upstream open reading frame (uORF), putatively leading to a loss of function. We searched for NIPBL 5'-UTR variants potentially...
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