Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Raissa Relator, Michael A Levy, Slavica Trajkova, Sylvia A Huisman, Emilia K Bijlsma, Tjitske Kleefstra, Bregje W van Bon, Özlem Baysal, Christiane Zweier, María Palomares-Bralo, Jan Fischer, Katalin Szakszon, Laurence Faivre, Amélie Piton, Simone Mesman, Ron Hochstenbach, Mariet W Elting, Johanna M van Hagen, Astrid S Plomp, Marcel M A M Mannens, Mariëlle Alders, Mieke M van Haelst, Giovanni B Ferrero, Alfredo Brusco, Peter Henneman, David A Sweetser, Bekim Sadikovic, Antonio Vitobello, Leonie A Menke
BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated in PTHS, prompting the investigation of a DNA methylation (DNAm) "episignature" specific to PTHS, for diagnostic purposes and variant reclassification, and further functional insights into the molecular pathophysiology of this disorder...
April 2, 2024: HGG advances