Genetic mutation causes sub-type of Autism Spectrum Disorder. Groundbreaking research links mutation in CHD8 gene to Autism.

autism1A groundbreaking new study has emerged as a result of the collaboration of 13 institutions. The research published in Cell Magazine has linked a sup-type of Autism to a specific gene mutation. Autism spectrum disorders range from severe to mild on a spectrum and recent estimates point to the fact that there are hundreds of sub-types. Prior research has specified a genetic link with a number of genes associated with autism development as well as the result of epigenetic influences.

The specific gene analyzed in this study was the CHD8 gene which has been linked to an autism sub type characterized by gastrointestinal disorders, a larger head, wide set eyes and issues in sleep disorders.

The study analyzed 6,176 children with autism spectrum disorder, and researchers found that 15 had a CHD8 mutation producing the above characteristics.

“We finally got a clear cut case of an autism specific gene,” said Raphael Bernier, the lead author, and UW associate professor in the Department of Psychiatry and Behavioral Sciences and the clinical director of the Autism Center at Seattle Children’s.

The findings were confirmed through animal studies. Researchers at Duke University disrupted the CHD8 gene in Zebra fish and the fish developed large heads and wide set eyes. They then fed the fish fluorescent pellets and found that the fish had problems discarding food waste and were constipated.

The results could lead the way to a “genetics-first approach” that could uncover hundreds more genetic mutations and lead to genetic testing. Genetic testing could be offered to families as a way of guiding them on what to expect and how to care for their child. Currently, autism is diagnosed based on behavior, said Bernier and characterized the study as a game changer as to how scientists research autism.


Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke H. Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, Antonino Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve Bakken, Brian J. O’Roak, Matthew Pawlus, Randall Moon, Jay Shendure, David G. Amaral, Ed Lein, Julia Rankin, Corrado Romano, Bert B.A. de Vries, Nicholas Katsanis, Evan E. Eichler. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development. Cell, 2014; DOI: 10.1016/j.cell.2014.06.017

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