Article
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.
Human mutation - 1 Jan 2023
Douben Hannie, Hoogeveen-Westerveld Marianne, Nellist Mark, Louwen Jesse, Haan Marian Kroos-de, Punt Mattijs, van Ommeren Babeth, van Unen Leontine, Elfferich Peter, Kasteleijn Esmee, van Bever Yolande, van Vliet Margreethe, Oostenbrink Rianne, Saris Jasper J, Wagner Anja, van Ierland Yvette, van Ham Tjakko, van Minkelen Rick
Abstract excerpt
Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by inactivating variants in NF1 and SPRED1. NF1 encodes neurofibromin (NF), a GTPase-activating protein (GAP) for RAS that interacts with the SPRED1 product, Sprouty-related protein with an EVH (Ena/Vasp homology) domain 1 (SPRED1). Obtaining a clinical and molecular diagnosis of NF1 or LS can be challenging due to the phenotypic diversity, the...
Read the complete abstract on PubMedTopics
- Humans
- Neurofibromatosis 1
- Neurofibromin 1
- RNA Splicing