Genes associated with autism spectrum disorder.
Autism spectrum disorder (ASD) is a heterogeneous grouping of neurodevelopmental disorders characterized by impairment in social interaction, verbal communication and repetitive/stereotypic behaviors. Much evidence suggests that ASD is multifactorial with a strong genetic basis, but the underlying mechanisms are far from clear. Recent advances in genetic technologies are beginning to shed light on possible etiologies of ASD. This review discusses current evidence for several widely studied candidate ASD genes, as well as various rare genes that supports their relationship to the etiology of ASD. The majority of the data are based on molecular, cytogenetic, linkage and association studies of autistic subjects, but newer methods, including whole-exome sequencing, are also beginning to make significant contributions to our understanding of autism.
Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, New York, NY 10314, United States. xiaohong.li@omr.state.ny.us
Xiaohong
X
Li
Hua
H
Zou
W Ted
WT
Brown
D002352:Carrier Proteins / Q000235:genetics; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D016326:Extracellular Matrix Proteins; D018628:Gene Dosage; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D019859:Proto-Oncogene Proteins c-met / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics; D018045:Receptors, Oxytocin / Q000235:genetics; D000091042:Reelin Protein; D012697:Serine Endopeptidases; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics
D002352:Carrier Proteins; D015816:Cell Adhesion Molecules, Neuronal; D016326:Extracellular Matrix Proteins; C527987:GABRG3 protein, human; D008565:Membrane Proteins; D033681:Mitochondrial Membrane Transport Proteins; C430845:NLGN4X protein, human; D009419:Nerve Tissue Proteins; C569600:OXTR protein, human; D011963:Receptors, GABA-A; D018045:Receptors, Oxytocin; D000091042:Reelin Protein; C114606:SLC25A12 protein, human; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; C098004:neuroligin 3; C491743:MET protein, human; D019859:Proto-Oncogene Proteins c-met; D012697:Serine Endopeptidases