학술논문
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
transformation/transcription domain associated protein gene
transformation/transcription domain associated protein gene
Document Type
Clinical report
Author
Source
BMC Medical Genetics. November 13, 2018, Vol. 19 Issue 1
Subject
Language
English
ISSN
1471-2350
Abstract
Author(s): Chrystal F. Mavros[sup.1,2] , Catherine A. Brownstein[sup.1,2] , Roshni Thyagrajan[sup.1,2] , Casie A. Genetti[sup.1,2] , Sahil Tembulkar[sup.3] , Kelsey Graber[sup.3] , Quinn Murphy[sup.1,2] , Kristin Cabral[sup.1,2] , Grace E. [...]
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 (EST00000355540.3: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. Conclusions 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. Keywords: Psychosis, Obsessive compulsive disorder, Childhood onset psychosis, Very early onset psychosis, Major depression with psychotic features
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 (EST00000355540.3: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. Conclusions 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. Keywords: Psychosis, Obsessive compulsive disorder, Childhood onset psychosis, Very early onset psychosis, Major depression with psychotic features