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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : American journal of human genetics

Insufficient Evidence for “Autism-Specific” Genes.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in American journal of human genetics - 07 May 2020

Myers SM, Challman TD, Bernier R, Bourgeron T, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH,

Link to Pubmed [PMID] – 32359473

Link to DOI [DOI] – S0002-9297(20)30113-010.1016/j.ajhg.2020.04.004

Am J Hum Genet 2020 05; 106(5): 587-595

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.

https://pubmed.ncbi.nlm.nih.gov/32359473