Open AccessRecent genetic and functional insights in autism spectrum disorder
Author(s) -
Moe Nakanishi,
Matthew P. Anderson,
Toru Takumi
Publication year - 2019
Publication title -
current opinion in neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 119
eISSN - 1473-6551
pISSN - 1350-7540
DOI - 10.1097/wco.0000000000000718
Subject(s) - autism spectrum disorder , candidate gene , penetrance , autism , endophenotype , functional genomics , human genetics , biology , genome wide association study , neuroscience , genetics , genomics , gene , computational biology , bioinformatics , medicine , genome , single nucleotide polymorphism , phenotype , psychiatry , cognition , genotype
Recent advances in genetic technologies allowed researchers to identify large numbers of candidate risk genes associated with autism spectrum disorder (ASD). Both strongly penetrant rare variants and the accumulation of common variants with much weaker penetrance contribute to the cause of ASD. To identify the highly confident candidate genes, software and resources have been applied, and functional evaluation of the variants has provided further insights for ASD pathophysiology. These studies ultimately identify the molecular and circuit alteration underlying the behavioral abnormalities in ASD. In this review, we introduce the recent genetic and genomic findings and functional approaches for ASD variants providing a deeper understanding of the etiology of ASD.