Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
Overall, our results support the association of biallelic BRF2 variants with a novel neurodevelopmental disease and provide an additional link between RNA polymerase III, its targets and craniofacial anomalies.
Authors
- Gísli H. Halldórsson (ORCID: https://orcid.org/0000-0001-7067-9862)
- Hreinn Stefánsson (ORCID: https://orcid.org/0000-0002-9331-6666)
- Alexandre Reymond (ORCID: https://orcid.org/0000-0003-1030-8327)
- Páll Melsted (ORCID: https://orcid.org/0000-0002-8418-6724)
- Francesca Mattioli (ORCID: https://orcid.org/0000-0002-1595-4320)
- Daníel F. Guðbjartsson (ORCID: https://orcid.org/0000-0002-5222-9857)
- Shagufta Naz (ORCID: https://orcid.org/0000-0001-9699-5193)
- Emily Farrow (ORCID: https://orcid.org/0000-0002-8864-7073)
- Marco Seri (ORCID: https://orcid.org/0000-0003-2425-2176)
- Nazia Ibrahim (ORCID: https://orcid.org/0009-0006-5706-2044)
- Flavia Palombo (ORCID: https://orcid.org/0000-0002-1639-3764)
- Patrick Sulem (ORCID: https://orcid.org/0000-0001-7123-6123)
- Tommaso Pippucci (ORCID: https://orcid.org/0000-0001-7737-7963)
- Muhammad Ansar (ORCID: https://orcid.org/0000-0001-7299-3185)
- Sissy Bassani (ORCID: https://orcid.org/0000-0001-6800-8584)
- Rún Friðriksdóttir
- Ásmundur Oddsson (ORCID: https://orcid.org/0000-0002-4606-5163)
- Carol Saunders (ORCID: https://orcid.org/0000-0002-7407-7735)
- Anne Hebert (ORCID: https://orcid.org/0000-0002-8945-015X)
- Jacqueline Chrast
- Nicolas Guex
- Nayereh Nouri
- Clara Pailler-Pradeau
Institutions
- Isfahan University of Medical Sciences (IR)
- deCODE Genetics (Iceland) (IS)
- Children's Mercy Hospital (US)
- Lahore College for Women University (PK)
- University of Iceland (IS)
- Azienda USL di Bologna (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Fondation Asile des Aveugles (CH)
- University of Missouri–Kansas City (US)
- University of Lausanne (CH)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-04-14
- DOI
- https://doi.org/10.1186/s13073-025-01463-3
- Citations
- 2
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Science Foundation
- Children's Mercy Hospital
- Lahore College for Women University
- Fondation Jérôme Lejeune
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Université de Lausanne
- Higher Education Commision, Pakistan