Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder
Journal
Journal of the Formosan Medical Association
Journal Volume
115
Journal Issue
7
Pages
577-582
Date Issued
2016
Author(s)
Abstract
Microdeletion at 22q11.2, a common copy number variation (CNV) noted in neurodevelopmental disorders, may be associated with cognitive impairment. However, cognitive function in individuals with microduplication remains unclear. This work presents the genetic, clinical, and brain structural data of two men out of 335 probands with autistic spectrum disorder (ASD) who had different CNV dosages at 22q11.2, and comparison with their siblings, 55 ASD probands, and 73 controls. Both showed severe autistic symptoms, but the proband with microduplication demonstrated better cognitive functions. Furthermore, different cingulate gyrus volume changes were noted, indicating that the proband with 22q11.2 microduplication had a different pattern of cingulate gyrus structure. Our comprehensive characterization of the behavioral, cognitive, and imaging phenotypes of ASD probands with different CNV dosage at 22q11.2 contribute to how copy number changes at 22q11.2 mediate the phenotypes in ASD, and pave the way for future clinical and functional study on these variants. ? 2016 Formosan Medical Association. Published by Elsevier Taiwan LLC.
SDGs
Other Subjects
Article; autism; brain size; child; chromosome deletion; chromosome deletion 22q11.2; cingulate gyrus; cognition; cognitive defect; controlled study; copy number variation; disease severity; female; gene dosage; gene locus; human; major clinical study; male; phenotype; school child; sibling; social interaction; social status; adolescent; autism; chromosome deletion 22q11; cognition; complication; diagnostic imaging; genetics; preschool child; psychology; Taiwan; 22q11 Deletion Syndrome; Adolescent; Autism Spectrum Disorder; Child; Child, Preschool; Cognition; DNA Copy Number Variations; Female; Gyrus Cinguli; Humans; Male; Phenotype; Taiwan
Publisher
Elsevier B.V.
Type
journal article