De novo mutations in autism implicate the synaptic elimination network
Abstract/Contents
- Abstract
- Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder. We then validated that the synaptic elimination gene set is implicated in autism by doing a case-control analysis using the iHART dataset, which currently contains 2308 whole genomes. The results demonstrate that autism-associated de novos are linked to proper synaptic pruning and density, hinting at the etiology of autism and suggesting pathophysiology for downstream correction and treatment.
Description
| Type of resource | text |
|---|---|
| Date created | May 5, 2017 |
Creators/Contributors
| Author | Venkataraman, Guhan |
|---|---|
| Contributing author | O'Connell, Chloe |
| Contributing author | Egawa, Fumiko |
| Contributing author | Kashef-Haghighi, Dorna |
| Principal investigator | Wall, Dennis P. |
Subjects
| Subject | Autism |
|---|---|
| Subject | synaptic elimination |
| Subject | Bioengineering |
| Subject | School of Engineering |
| Subject | Honors |
| Subject | Pediatrics |
| Subject | Biomedical Data Science |
| Subject | statistics |
| Genre | Thesis |
Bibliographic information
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- Use and reproduction
- User agrees that, where applicable, content will not be used to identify or to otherwise infringe the privacy or confidentiality rights of individuals. Content distributed via the Stanford Digital Repository may be subject to additional license and use restrictions applied by the depositor.
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
Preferred citation
- Preferred Citation
- Guhan Ram Venkataraman, Chloe O’Connell, Fumiko Egawa, Dorna Kashef-Haghighi, Dennis P. Wall. De novo mutations in autism implicate the synaptic elimination network. Stanford Digital Repository. Available at: http://purl.stanford.edu/mt861ys2776
Collection
Undergraduate Theses, School of Engineering
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- Contact
- guhan@stanford.edu
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