title: Complex genomic variants contribute toward the genetic architecture of autism spectrum disorder.
abstract: Genetic factor plays a critical role in the etiology of autism spectrum disorder (ASD). Both common variants with a small effect and rare mutations with a large effect contribute toward the genetic basis of ASD, showing the high genetic heterogeneity of ASD. Genomic rearrangements account for around 10-15% of its genetic landscape. However, they are highly individualized and each of them has a very rare frequency.
authors.affiliation: aDepartment of Psychiatry, Chang Gung Memorial Hospital-Linkou Medical Center bDepartment and Graduate Institute of Biomedicine, Chang Gung University, Taoyuan cDepartment of Psychiatry, National Taiwan University Hospital and College of Medicine dDepartment of Life Sciences and Institute of Genome Sciences, National Yang-Ming University eGraduate Institute of Brain and Mind Sciences and Graduate Institute of Clinical Medicine, National Taiwan University, Taipei fCenter for Medical Genetics, Tzu-Chi General Hospital, Hualien, Taiwan gSection on Molecular Neurobiology, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Chen
authors.forename: Hsiao-Mei
authors.initials: HM
authors.lastname: Liao
authors.forename: Hsin-I
authors.initials: HI
authors.lastname: Chen
authors.forename: Jye-Siung
authors.initials: JS
authors.lastname: Fang
authors.forename: Yan-Jang
authors.initials: YJ
authors.lastname: Chen
authors.forename: Kuei-Fang
authors.initials: KF
authors.lastname: Lee
authors.forename: Susan Shur-Fen
authors.initials: SS
authors.lastname: Gau
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D002352:Carrier Proteins; D015816:Cell Adhesion Molecules, Neuronal; D008565:Membrane Proteins; C430845:NLGN4X protein, human; C073441:gephyrin