Recent Advances in the Genetics of Autism Spectrum Disorder

Overview

Journal Curr Neurol Neurosci Rep

Specialty Neurology

Date 2015 May 8

PMID 25946996

Citations 33

Authors

Silvia De Rubeis

Joseph D Buxbaum

Affiliations

Soon will be listed here.

Abstract

Autism spectrum disorder (ASD) is a devastating neurodevelopmental disorder with high prevalence in the population and a pronounced male preponderance. ASD has a strong genetic basis, but until recently, a large fraction of the genetic factors contributing to liability was still unknown. Over the past 3 years, high-throughput next-generation sequencing on large cohorts has exposed a heterogeneous and complex genetic landscape and has revealed novel risk genes. Here, we provide an overview of the recent advances on the ASD genetic architecture, with an emphasis on the estimates of heritability, the contribution of common variants, and the role of inherited and de novo rare variation. We also examine the genetic components of the reported gender bias. Finally, we discuss the emerging findings from sequencing studies and how they illuminate crucial aspects of ASD pathophysiology.

Citing Articles

Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.

Regev O, Shil A, Bronshtein T, Hadar A, Meiri G, Zigdon D J Neurodev Disord. 2024; 16(1):55.

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Beyond the three-chamber test: toward a multimodal and objective assessment of social behavior in rodents.

Jabarin R, Netser S, Wagner S Mol Autism. 2022; 13(1):41.

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Disruption of grin2B, an ASD-associated gene, produces social deficits in zebrafish.

Zoodsma J, Keegan E, Moody G, Bhandiwad A, Napoli A, Burgess H Mol Autism. 2022; 13(1):38.

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Excitation/Inhibition Modulators in Autism Spectrum Disorder: Current Clinical Research.

Canitano R, Palumbi R Front Neurosci. 2021; 15:753274.

PMID: 34916897 PMC: 8669810. DOI: 10.3389/fnins.2021.753274.

The Gut-Brain-Microbiome Axis and Its Link to Autism: Emerging Insights and the Potential of Zebrafish Models.

James D, Davidson E, Yanes J, Moshiree B, Dallman J Front Cell Dev Biol. 2021; 9:662916.

PMID: 33937265 PMC: 8081961. DOI: 10.3389/fcell.2021.662916.

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