Nicole Revencu

Jul 11, 2024 | nature.com | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Sarah Stenton |Susan Walker |Jenny Lord | +42 more

AbstractAround 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2.

Mar 25, 2024 | nature.com | Anne Hebert |Arjan C. Houweling |Minna Kraatari-Tiri |Alan Lu |Stephen Oakley |Nicole Revencu | +5 more

AbstractPathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we have considerably expanded our MRLS cohort to a total of 18 probands (16 males and 2 females). Segregation analyses identified 36 additional BGN variant-harboring family members (9 males and 27 females).