1. 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
- Author
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Joseph Gonzalez-Heydrich, Alan H. Beggs, Sahil Tembulkar, Jason M. Fogler, Devon Carroll, Robin J. Kleiman, Kaya Bilguvar, Timothy W. Yu, Va Lip, Jonathan Picker, Elizabeth C. Engle, Rachel C. O. Schmitt, Eugene J. D'Angelo, Kyle O'Donnell, Yiping Shen, April Kim, Robert Wolff, Catherine A. Brownstein, and Meghan C. Towne
- Subjects
Male ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Psychosis ,DNA Copy Number Variations ,Developmental Disabilities ,Bioinformatics ,Article ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,mental disorders ,Intellectual disability ,Genotype ,Genetics ,medicine ,Humans ,Autistic Disorder ,Child ,Gene ,Genetic Association Studies ,Genetics (clinical) ,Comparative Genomic Hybridization ,business.industry ,medicine.disease ,030104 developmental biology ,Psychotic Disorders ,Schizophrenia ,Child, Preschool ,Autism ,Female ,Chromosome Deletion ,business ,Chromosomes, Human, Pair 16 ,030217 neurology & neurosurgery ,Signal Transduction ,Comparative genomic hybridization - 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.
- Published
- 2016