Category Archives: Uncategorized

We’re going to the zoo zoo zoo!

Staff from the Bernier Lab visited Seattle’s Woodland Park Zoo to discuss collaborating on some future projects.  While we were there, we got to meet Molly the Porcupine, up close and personal!

Here are some fun pictures of the adorable Molly. Thank you Woodland Park Zoo for the meet and greet!

Molly the Porcupine
Micah Pepper and Molly’s Selfie
Raphe Bernier and Molly
Alex Cole, Emily Fox and Molly


New publication on how Exonic Mosaic Mutations contribute to the risk of ASD

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Krupp, D.R., Barnard, R.A., Duffourd, Y., Evans, S.A., Mulqueen, R.M., Bernier, R., Riviere, JB., Fombonne, E., O’Roak, B.J. (2017) The Journal of Human Genetics.

Full Article: Exonic Mosaic Mutations ASD 2017-min


Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection, we systematically evaluated the potential role of PMMs in autism risk. Initial re-evaluation of published single-nucleotide variant (SNV) de novo mutations showed evidence consistent with putative PMMs for 11% of mutations. We developed a robust and sensitive SNV PMM calling approach integrating complementary callers, logistic regression modeling, and additional heuristics. In our high-confidence call set, we identified 470 PMMs in children, increasing the proportion of mosaic SNVs to 22%. Probands have a significant burden of synonymous PMMs and these mutations are enriched for computationally predicted impacts on splicing. Evidence of increased missense PMM burden was not seen in the full cohort. However, missense burden signal increased in subcohorts of families where probands lacked nonsynonymous germline mutations, especially in genes intolerant to mutations. Parental mosaic mutations that were transmitted account for 6.8% of the presumed de novo mutations in the children. PMMs were identified in previously implicated high-confidence neurodevelopmental disorder risk genes, such as CHD2, CTNNB1, SCN2A, and SYNGAP1, as well as candidate risk genes with predicted functions in chromatin remodeling or neurodevelopment, including ACTL6B, BAZ2B, COL5A3, SSRP1, and UNC79. We estimate that PMMs potentially contribute risk to 3%-4% of simplex ASD case subjects and future studies of PMMs in ASD and related disorders are warranted.

Study: Antidepressants and genetic risk factors increase risk of ASD

A recent study coauthored by the Bernier Lab’s Dr. Raphael Bernier and Dr. Caitlin Hudac found that antidepressants taken during pregnancy may be associated with an increased severity in autism when combined with underlying genetic risk factors.

Click HERE to read the full article


Rare Autism-Related Genetic Consultation Clinic at Seattle Children’s Autism Center

The Seattle Children’s Autism Center has launched the new Rare Autism-Related Genetic Consultation Clinic (RARE Clinic)!

Children born with certain genetic changes (mutations) may have autism spectrum disorder; speech and language disorders; intellectual disabilities; physical differences; seizures; gastrointestinal problems; or sleep concerns. The RARE Clinic will provide a short-term consultation service, usually 3 to 4 appointments in a single day, to help address concerns related to your child’s genetic change. Your child will be see by experts in psychology; speech and language; and pediatrics.

For more information families should call 206-987-8080 and visit the Seattle Children’s Autism Center website!

Genetic changes include:

  • 16p11.2 deletion/duplication
  • ADNP
  • CHD2
  • CHD8
  • DYRK1A
  • GRIN2B
  • POGZ
  • SCN2A
  • TRIP12



SPARK Webinar 8/16: IEPs