Insufficient Evidence for “Autism-Specific” Genes

Scott M. Myers, Thomas D. Challman, Raphael Bernier, Thomas Bourgeron, Wendy K. Chung, John N. Constantino, Evan E. Eichler, Sebastien Jacquemont, David T. Miller, Kevin J. Mitchell, Huda Y. Zoghbi, Christa Lese Martin, David H. Ledbetter

Research output: Contribution to journalComment/debate

87 Scopus citations


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.

Original languageEnglish
Pages (from-to)587-595
Number of pages9
JournalAmerican journal of human genetics
Issue number5
StatePublished - May 7 2020


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