Skip To Main Content
Patrick Rump on Muck Rack

Patrick Rump

As seen in: Nature
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile
Back to Patrick Rump’s profile

Articles by Patrick Rump

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy - Nature Genetics

|
By Koenraad De Wispelaere, Rachel Schot, Irene Valenzuela, Shane McKee, Kari Stefansson, Clara van Karnebeek, Pradeep Vasudevan, Marc Engelen, Kathy Stirrups, Tahsin Stefan Barakat, Kathleen Freson, Frank Sleutels, Patrick Rump
| Nature Verified
Abstract The major spliceosome includes five small nuclear RNA (snRNAs), U1, U2, U4, U5 and U6, each of which is encoded by multiple genes. We recently showed that mutations in RNU4-2, the gene that encodes the U4-2 snRNA, cause one of the most prevalent monogenic neurodevelopmental disorders. Here, we report that recurrent germline mutations in RNU2-2 (previously known as pseudogene RNU2-2P), a 191-bp gene that encodes the U2-2 snRNA, are responsible for a related disorder.
Open in Who Shared Issue with article?
Show More