BMC medical genetics · 2018
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.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
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Mavros Chrystal F, Brownstein Catherine A, Thyagrajan Roshni, Genetti Casie A, Tembulkar Sahil, Graber Kelsey, Murphy Quinn, Cabral Kristin, VanNoy Grace E, Bainbridge Matthew, Shi Jiahai, Agrawal Pankaj B, Beggs Alan H, D'Angelo Eugene, Gonzalez-Heydrich Joseph
Аннотация
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.
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.
Предметные рубрики MeSH
Adaptor Proteins, Signal TransducingAge of OnsetAutism Spectrum DisorderChildGene ExpressionGenotypeHumansLearning DisabilitiesMaleMendelian Randomization AnalysisModels, MolecularNuclear ProteinsObsessive-Compulsive DisorderPhenotypePoint MutationProtein ConformationPsychotic DisordersExome Sequencing