FBXW7 is a known developmental regulator and tumor suppressor gene. It is likely that haploinsufficiency or loss of function in the FBXW7 gene is associated with deleterious effects on developmental pathways that result in neurodevelopmental syndrome.
Monoallelic variants have been identified as both de novo and as inherited germline monoallelic chromosomal deletions and nonsense, frameshift, splice-site, and missense variants in the individuals studied.
Molecular diagnosis can be achieved by exome/genome sequencing or panel testing (if FBXW7 is included on the panel).
FBXW7