Background: TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental processes, and variants in this gene have been associated with schizophrenia and childhood disintegrative disorder.
Case Presentation: Here, we report on a patient with a de novo nonsynonymous TRRAP single-nucleotide variant (EST00000355540.