title: 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.
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.
authors.affiliation: The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.|Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.|Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Brownstein
authors.affiliation: Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts.|FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.|Department of Neurology, Harvard Medical School, Boston, Massachusetts.|Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Robin J
authors.initials: RJ
authors.lastname: Kleiman
authors.affiliation: The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.|Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.|FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.|Department of Neurology, Harvard Medical School, Boston, Massachusetts.|Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.|Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.|Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.|Howard Hughes Medical Institute, Chevy Chase, Maryland.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Engle
authors.affiliation: The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.|Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Meghan C
authors.initials: MC
authors.lastname: Towne
authors.affiliation: Division of Psychology, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts.|Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.|Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Eugene J
authors.initials: EJ
authors.lastname: D'Angelo
authors.affiliation: The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.|Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.|Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Timothy W
authors.initials: TW
authors.lastname: Yu
authors.affiliation: The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.|Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.|Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.|Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.|Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Picker
authors.affiliation: Division of Psychology, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts.|Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.|Developmental Medicine Center, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Jason M
authors.initials: JM
authors.lastname: Fogler
authors.affiliation: Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Devon
authors.initials: D
authors.lastname: Carroll
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.|Division of Psychology, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts.|Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
authors.forename: Rachel C O
authors.initials: RC
authors.lastname: Schmitt
authors.affiliation: Department of Neurology, Harvard Medical School, Boston, Massachusetts.|Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Robert R
authors.initials: RR
authors.lastname: Wolff
authors.affiliation: Claritas Genomics, Cambridge, Massachusetts.|Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.|Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut.
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
authors.affiliation: Claritas Genomics, Cambridge, Massachusetts.
authors.forename: Va
authors.initials: V
authors.lastname: Lip
authors.affiliation: Department of Pathology, Harvard Medical School, Boston, Massachusetts.
authors.forename: Kaya
authors.initials: K
authors.lastname: Bilguvar
authors.affiliation: Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: April
authors.initials: A
authors.lastname: Kim
authors.affiliation: Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Sahil
authors.initials: S
authors.lastname: Tembulkar
authors.affiliation: Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Kyle
authors.initials: K
authors.lastname: O'Donnell
authors.affiliation: Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.|Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Joseph
authors.initials: J
authors.lastname: Gonzalez-Heydrich
mesh_terms: D001321:Autistic Disorder / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D011618:Psychotic Disorders / Q000235:genetics* / Q000503:physiopathology; D012559:Schizophrenia / Q000235:genetics* / Q000503:physiopathology; D015398:Signal Transduction
keywords: CNV; genetics; psychosis; schizophrenia