Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, Lisa Pavinato, Enza Ferrero, Chiara Giovenino, Diana Carli, Eleonora Di Gregorio, Roberta Marinoni, Giorgia Mandrile, Flavia Palermo, Silvia Carestiato, Simona Cardaropoli, Verdiana Pullano, Antonina Rinninella, Elisa Giorgio, Tommaso Pippucci, Paola Dimartino, Jessica Rzasa, Kathleen Rooney, Haley McConkey, Aleksandar Petlichkovski, Barbara Pasini, Elena Sukarova-Angelovska, Christopher M Campbell, Kay Metcalfe, Sarah Jenkinson, Siddharth Banka, Alessandro Mussa, Giovanni Battista Ferrero, Bekim Sadikovic, Alfredo Brusco
Analysis of genomic DNA methylation by generating epigenetic signature profiles ("episignatures") is increasingly being implemented in genetic diagnosis. Here we report our experience using episignature analysis to resolve both uncomplicated and complex cases of neurodevelopmental disorder (NDD). We analysed 97 NDDs divided into: (i) a validation cohort of 59 patients with likely pathogenic/pathogenic variants characterized by a known episignature and (ii) a test cohort of 38 patients harbouring variants of unknown significance (VUS) or unidentified variants...
May 14, 2024: HGG advances