Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses
Because diagnostic criteria for NF1 and SWN include genetic testing, resolving VUSs in those who do not meet criteria is crucial for clinical care. In this article, we report 3 cases in which RNA testing and tissue analysis clarified pathogenicity of VUSs, thereby affecting clinical care, and in one case providing a definitive diagnosis.
Authors
- Krista Schatz
- Bronwyn Slobogean
- Carlos G. Romo
- Allan J. Belzberg
- Carolyn D. Applegate
- Jaishri Blakeley
- Yunjia Chen
Institutions
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- University of Alabama at Birmingham (US)
- University of Kansas Medical Center (US)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1212/nxg.0000000000200347
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00