A Novel Variant in Transformation/Transcription Mediator-Associated Protein (TRRAP) at a Known Hot Spot Causing a Blended Phenotype: Implications for Further Research

The transformation/transcription mediator-associated protein, or TRRAP, is a crucial component of gene expression regulation and transcription.This protein acts as a cofactor for histone acetyltransferases, allowing the regulated progression of the cell cycle, which is crucial for early neural development.We report on a young male patient with a previously unreported variant in the TRRAP gene whose phenotype is similar to that of patients with other previously reported TRRAP-related neurodevelopmental disorders.We compare and contrast this patient's presentation with other reported cases and argue for the pathogenicity of this variant of uncertain significance.This variant may also support the pathogenicity of a hotspot region within the TRRAP gene, and we argue for adding this variant to the list of syndrome-causing variants.