The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

• Published in: Trends in neurosciences (Regular ed.) Vol. 32; no. 7; pp. 402 - 412
• Main Authors: Betancur, Catalina, Sakurai, Takeshi, Buxbaum, Joseph D.
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Ltd 01.07.2009; Elsevier; Elsevier Sequoia S.A
• Subjects: Animals; Autism; Autistic Disorder - genetics; Autistic Disorder - metabolism; Autistic Disorder - pathology; Biological and medical sciences; Cell adhesion & migration; Cell Adhesion - genetics; Cell Adhesion - physiology; Cell Adhesion Molecules - genetics; Cell Adhesion Molecules - physiology; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); Fundamental and applied biological sciences. Psychology; General aspects. Models. Methods; Genetic Predisposition to Disease - genetics; Genetics; Genomics; Humans; Life Sciences; Medical genetics; Medical sciences; Neurology; Neurons; Neurosciences; Signal Transduction - genetics; Signal Transduction - physiology; Synapses - genetics; Synapses - physiology; Vertebrates: nervous system and sense organs; Human; Chromosome fragility; Animal model; High risk; Nervous system diseases; Pathogenesis; Genetic variant; Developmental disorder; Review; Genetic disease; Cerebral disorder; Autism; Validity; Pervasive developmental disorder; Central nervous system disease; Rett syndrome; Tumor; Degenerative disease; Bourneville syndrome; Fragile X syndrome; mutation; copy number variation; gene; deletion; cell adhesion molecule; synapse; autism spectrum disorder

Recent advances in genetics and genomics have unveiled numerous cases of autism spectrum disorders (ASDs) associated with rare, causal genetic variations. These findings support a novel view of ASDs in which many independent, individually rare genetic variants, each associated with a very high relat...