A Rare Mutation in TRRAP Gene and the Expanded New Phenotype

Excerpt

To the Editor: Transformation/transcription mediator associated protein (TRRAP) plays a critical role in regulating gene expression through its involvement in chromatin remodeling and transcriptional activation [1]. It acts as a subunit of the integrator complex, which bridges the gap between transcription factors and the mediator complex, a crucial player in RNA polymerase II recruitment [2]. Mutations in TRRAP have been increasingly recognized as a cause of various human disorders, primarily affecting neurodevelopment, facial morphology, and skeletal development [3, 4]. The specific effects of mutations on TRRAP function depend on the location and nature of the amino acid change. …