title: Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder.
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.
authors.affiliation: Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.
authors.forename: Hsin-I
authors.initials: HI
authors.lastname: Chen
authors.affiliation: Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.
authors.forename: Yi-Ling
authors.initials: YL
authors.lastname: Chien
authors.affiliation: Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.
authors.forename: Hsio-Mei
authors.initials: HM
authors.lastname: Liao
authors.affiliation: Department of Occupational Therapy, College of Medicine, Fu-Jen Catholic University, New Taipei City, Taiwan.
authors.forename: Wei-Hsien
authors.initials: WH
authors.lastname: Chien
authors.affiliation: Department of Psychiatry, Chang Gung Memorial Hospital-Linkou, Taoyuan, Taiwan.
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Chen
authors.affiliation: Graduate Institute of Brain and Mind Sciences, National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Yu-Chieh
authors.initials: YC
authors.lastname: Chen
authors.affiliation: Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan; Graduate Institute of Brain and Mind Sciences, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: gaushufe@ntu.edu.tw.
authors.forename: Susan Shur-Fen
authors.initials: SS
authors.lastname: Gau
mesh_terms: D058165:22q11 Deletion Syndrome / Q000150:complications*; D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000523:psychology*; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D056915:DNA Copy Number Variations; D005260:Female; D006179:Gyrus Cinguli / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010641:Phenotype; D013624:Taiwan
keywords: 22q11.2; brain structure; cognition; copy number variation; social function