Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

American Journal of Medical Genetics. Part a
Catherine A BrownsteinJoseph Gonzalez-Heydrich

Abstract

Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways previously implicated in Autism Spectrum Disorders, including the mTOR signaling and the ubiquitin-proteasome cascades. A careful screening of the 16p13.11 region is warranted in patients with childhood onset psychosis.

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Citations

Mar 12, 2020·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Rita BaroneRenata Rizzo
Oct 16, 2016·Cellular and Molecular Life Sciences : CMLS·Nicholas J Bradshaw, Mirian A F Hayashi
Dec 21, 2018·Neonatal Network : NN·Amanda Elizabeth SmithDesi Newberry

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