Skip to Main content Skip to Navigation
Journal articles

Insufficient Evidence for “Autism-Specific” Genes

Abstract : Despite evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there has been considerable interest in identifying genes that, when mutated, confer risk that is largely specific for autism spectrum disorder (ASD). Here, we review the findings and limitations of recent efforts to identify relatively "autism-specific" genes, efforts which focus on rare variants of large effect size that are thought to account for the observed phenotypes. We present a divergent interpretation of published evidence; discuss practical and theoretical issues related to studying the relationships between rare, large-effect deleterious variants and neurodevelopmental phenotypes; and describe potential future directions of this research. We argue that there is currently insufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-variant data.
Document type :
Journal articles
Complete list of metadata

https://hal-pasteur.archives-ouvertes.fr/pasteur-03325406
Contributor : Benjamin Devauchelle <>
Submitted on : Tuesday, August 24, 2021 - 5:11:01 PM
Last modification on : Friday, August 27, 2021 - 3:10:12 AM

File

1-s2.0-S0002929720301130-main....
Publication funded by an institution

Licence


Distributed under a Creative Commons Attribution - NonCommercial - NoDerivatives 4.0 International License

Identifiers

Collections

Citation

Scott Myers, Thomas Challman, Raphael Bernier, Thomas Bourgeron, Wendy Chung, et al.. Insufficient Evidence for “Autism-Specific” Genes. American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (5), pp.587-595. ⟨10.1016/j.ajhg.2020.04.004⟩. ⟨pasteur-03325406⟩

Share

Metrics

Record views

5

Files downloads

15