De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum

Heterozygous POLR2A variants have been recently reported in patients with a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia. POLR2A encodes the highly conserved RBP1 protein, an essential subunit of the DNA-dependent RNA polymerase II.

Source: Brain and Development - April 20, 2022 Category: Neurology Authors: Thea Giacomini, Marcello Scala, Giulia Nobile, Mariasavina Severino, Domenico Tortora, Lino Nobili, Andrea Accogli, Annalaura Torella, Valeria Capra, Maria Margherita Mancardi, Vincenzo Nigro, TUDP study group Tags: Case Report Source Type: research