De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

Authors:
Open Access
Publisher website
Google Scholar
Abstract
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. Here, we report on a patient with a de novo nonsynonymous TRRAP single-nucleotide variant (EST00000355540.3:c.5957G > A, p.Arg1986Gln) and early onset major depression accompanied by a psychotic episode (before age 10) that occurred in the context of longer standing nonverbal learning disability and a past history of obsessions and compulsions. The de novo variant and presentation of very early onset psychosis indicate a rare Mendelian disorder inheritance model. The genotype and behavioral abnormalities of this patient are reviewed.
Funding Information
  • National Institutes of Health (P30 HD18655)
  • Tommy Fuss Fund
  • Manton Center for Orphan Disease Research, Boston Children's Hospital
  • Office of Diversity and Inclusion Partnership, Harvard Medical School
  • Intellectual and Developmental Disabilities Research Center (1U54HD090255)

This publication has 31 references indexed in Scilit: