Article
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Human mutation - 1 Dec 2022
Coursimault Juliette, Cassinari Kévin, Lecoquierre François, Quenez Olivier, Coutant Sophie, Derambure Céline, Vezain Myriam, Drouot Nathalie, Vera Gabriella, Schaefer Elise, Philippe Anaïs, Doray Bérénice, Lambert Laëtitia, Ghoumid Jamal, Smol Thomas, Rama Mélanie, Legendre Marine, Lacombe Didier, Fergelot Patricia, Olaso Robert, Boland Anne, Deleuze Jean-François, Goldenberg Alice, Saugier-Veber Pascale, Nicolas Gaël
Abstract excerpt
Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA sequencing (RNA-seq) in 5 unsolved trios fulfilling the following criteria: (i) clinical diagnosis of classic CdLS, (ii) negative gene panel sequencing from blood and saliva-isolated DNA,...
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