Genetics of Autism Spectrum Disorder: An Update

摘要

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by a heterogeneous constellation of deficits in social communication and reciprocity along with restrictive, repetitive patterns of behavior. ASD is among the most heritable mental disorders with twin concordance rates ranging between 77% and 95% among monozygotic twins. Advances have been made in understanding the neurobiological mechanisms and genetic underpinnings of ASD. Over the past decades, studies have identified a role for both common and rare genetic variations contributing to autism. In this article, we review the genetics of ASD and highlight findings in the field.