Article
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Human mutation - 1 Sept 2022
Scala Marcello, Drouot Nathalie, MacLennan Suzanna C, Wessels Marja W, Krygier Magdalena, Pavinato Lisa, Telegrafi Aida, de Man Stella A, van Slegtenhorst Marjon, Iacomino Michele, Madia Francesca, Scudieri Paolo, Uva Paolo, Giacomini Thea, Nobile Giulia, Mancardi Maria Margherita, Balagura Ganna, Galloni Giovanni Battista, Verrotti Alberto, Umair Muhammad, Khan Amjad, Liebelt Jan, Schmidts Miriam, Langer Thorsten, Brusco Alfredo, Lipska-Ziętkiewicz Beata S, Saris Jasper J, Charlet-Berguerand Nicolas, Zara Federico, Striano Pasquale, Piton Amélie
Abstract excerpt
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have been recently associated with a new neurodevelopmental disorder (NDD) with hypotonia, neurological features, and brain abnormalities. We investigated eight unrelated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.