Autism Whole Genome Sequencing Reveals 134 Autism-Linked Genes
Published: 2022-11-11
Author: The Hospital for Sick Children | Contact: sickkids.ca
Peer-Reviewed Publication: Yes | DOI: https://dx.doi.org/10.1016/j.cell.2022.10.009
Additional References: Library of Autism Information Publications
Synopsis: Study sequences the entire genomes of more than 11,000 individuals, offering new insights into the genetics that underlie autism spectrum disorder. The paper also points to important nuances in autism genetics in families with only one individual with autism compared with families with multiple individuals with autism, known as multiplex families. The research team says the study data can help expand inquiries into the range of variants that might be linked to ASD, as well as efforts to understand better contributors to the 85 percent of autistic individuals for which the genetic cause remains unresolved.
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Definition
Autism
Autism, or autism spectrum disorder (ASD), is a lifelong, nonprogressive neurological disorder typically appearing before the age of three years. The word “autism” means a developmental disability is significantly affecting verbal and non-verbal communication and social interaction. People with ASD may behave, communicate, interact, and learn in ways that are different from most others. Often, nothing about how they look sets them apart from other people. The classic form of autism involves a triad of [...]