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Article

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

Brain & development - 1 Aug 2022

Giacomini Thea, Scala Marcello, Nobile Giulia, Severino Mariasavina, Tortora Domenico, Nobili Lino, Accogli Andrea, Torella Annalaura, Capra Valeria, Mancardi Maria Margherita, Nigro Vincenzo

Abstract excerpt

BACKGROUND: 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. CASE PRESENTATION: We investigated a 12-year-old girl presenting with an early-onset encephalopathy characterized by psychomotor delay,...

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PMID: 35461703
DOI: 10.1016/j.braindev.2022.04.002

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