The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome
Variants in the gene RNU4-2 were recently described to cause an autosomal dominant intellectual disability (ID) syndrome.1,2 Commonly used genetic testing methods, including gene panels and whole exome sequencing, have historically overlooked RNU4-2 since these primarily analyze protein-coding genes, whereas RNU4-2 encodes an RNA spliceosome component and not a protein. Molecular diagnosis currently requires whole genome sequencing.
Authors
- Zachary M. Grinspan (ORCID: https://orcid.org/0000-0001-6705-0932)
- Lynne M. Bird (ORCID: https://orcid.org/0000-0003-4833-3747)
- Kristen M. Wigby (ORCID: https://orcid.org/0000-0001-8952-3534)
- Marilyn C. Jones (ORCID: https://orcid.org/0000-0002-4512-2015)
- Amy Z. Chong
- Kristen Barbour (ORCID: https://orcid.org/0000-0003-0293-0108)
- Miguel Del Campo (ORCID: https://orcid.org/0000-0001-7910-8855)
- Jennifer Friedman (ORCID: https://orcid.org/0000-0001-7468-8598)
Institutions
- Cornell University (US)
- Rady Children's Hospital-San Diego (US)
Publication Details
- Journal
- Pediatric Neurology
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1016/j.pediatrneurol.2024.12.005
- Citations
- 4
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.20