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Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16.

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.

Brownstein CA1,2,3, Kleiman RJ4,5,6,7, Engle EC1,2,5,6,7,8,9,10, Towne MC1,2, D'Angelo EJ11,12,13, Yu TW1,2,3, Beggs AH1,2,3, Picker J2,3,12, Fogler JM11,12,14, Carroll D13, Schmitt RC7,11,12, Wolff RR6,7, Shen Y15,16,17, Lip V15, Bilguvar K18, Kim A13, Tembulkar S13, O'Donnell K13, Gonzalez-Heydrich J12,13.

Author information

1
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
2
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
3
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
4
Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts.
5
FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
6
Department of Neurology, Harvard Medical School, Boston, Massachusetts.
7
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
8
Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
9
Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
10
Howard Hughes Medical Institute, Chevy Chase, Maryland.
11
Division of Psychology, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts.
12
Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
13
Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
14
Developmental Medicine Center, Boston Children's Hospital, Boston, Massachusetts.
15
Claritas Genomics, Cambridge, Massachusetts.
16
Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.
17
Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut.
18
Department of Pathology, Harvard Medical School, Boston, Massachusetts.

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.

KEYWORDS:

CNV; genetics; psychosis; schizophrenia

PMID:
26887912
PMCID:
PMC4833544
DOI:
10.1002/ajmg.a.37595
[Indexed for MEDLINE]
Free PMC Article

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