Genetic etiologies of autism: Unpacking pathogenic mechanisms and characteristics

Caitlin M. Hudac; Nicole R. Friedman; Tychele N. Turner

doi:10.1016/B978-0-12-816393-1.00001-4

Genetic etiologies of autism: Unpacking pathogenic mechanisms and characteristics

Caitlin M. Hudac, Nicole R. Friedman, Tychele N. Turner

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

This chapter provides an overview of historical and modern approaches for understanding genetic causes of autism spectrum disorder (ASD), thought to account for ≥ 10%-30% of ASD. Innovations in modern genome and exome approaches and targeted sequencing within recent decades have implicated over 100 genes and genomic regions in ASD. We showcase recent advances from a genetics-first approach to characterize unique phenotypes of genetic ASD subgroups (e.g., de novo genetic variants, ASD-related syndromes). In addition, we describe future directions of ASD genetics, including the growing consensus of polygenic risk, relevance of noncoding regions, and rare inherited variants.

Original language	English
Title of host publication	The Neuroscience of Autism
Publisher	Elsevier
Pages	197-213
Number of pages	17
ISBN (Electronic)	9780128163931
ISBN (Print)	9780128167366
DOIs	https://doi.org/10.1016/B978-0-12-816393-1.00001-4
State	Published - Jan 1 2022

Keywords

ASD syndromes
De novo genetic variants
Genetic etiology
Genetics first approach
Genotype-phenotype correlation

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10.1016/B978-0-12-816393-1.00001-4

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ER -

Genetic etiologies of autism: Unpacking pathogenic mechanisms and characteristics

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Keywords

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