Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

Damaging Mutations are Associated with Diminished Motor Skills and IQ in Children on the Autism Spectrum

Andreas Buja, Natalia Volfovsky, Abba Krieger, Catherine Lord, Alex E. Lash, Michael Wigler, Ivan Iossifov
doi: https://doi.org/10.1101/141200
Andreas Buja
1Department of Statistics, The Wharton School, University of Pennsylvania, Philadelphia, PA, 19104, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Natalia Volfovsky
2Simons Foundation, New York, NY, 10010, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Abba Krieger
1Department of Statistics, The Wharton School, University of Pennsylvania, Philadelphia, PA, 19104, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Catherine Lord
3Weill Cornell Medicine, Center for Autism and the Developing Brain, White Plains, NY, 10605, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Alex E. Lash
2Simons Foundation, New York, NY, 10010, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Michael Wigler
4Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
5New York Genome Center, New York, NY, 10013, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: wigler@cshl.edu
Ivan Iossifov
4Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
5New York Genome Center, New York, NY, 10013, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Supplementary material
  • Preview PDF
Loading

Summary

In individuals with Autism Spectrum Disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ, but not with the core characteristics of ASD: deficits in social communication and interaction, and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impaired motor skills. This correlation is not explained by a correlation between IQ and motor skills. We find that IQ and motor skills are distinctly associated with damaging mutations and, in particular, that motor skills are a more sensitive indicator of mutational severity, as judged by the type and its gene target. We use this finding to propose a combined classification of phenotypic severity: mild (little impairment of both), moderate (impairment mainly to motor skills) and severe (impairment of both).

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
Back to top
PreviousNext
Posted May 23, 2017.
Download PDF

Supplementary Material

Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
Damaging Mutations are Associated with Diminished Motor Skills and IQ in Children on the Autism Spectrum
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
Damaging Mutations are Associated with Diminished Motor Skills and IQ in Children on the Autism Spectrum
Andreas Buja, Natalia Volfovsky, Abba Krieger, Catherine Lord, Alex E. Lash, Michael Wigler, Ivan Iossifov
bioRxiv 141200; doi: https://doi.org/10.1101/141200
Reddit logo Twitter logo Facebook logo LinkedIn logo Mendeley logo
Citation Tools
Damaging Mutations are Associated with Diminished Motor Skills and IQ in Children on the Autism Spectrum
Andreas Buja, Natalia Volfovsky, Abba Krieger, Catherine Lord, Alex E. Lash, Michael Wigler, Ivan Iossifov
bioRxiv 141200; doi: https://doi.org/10.1101/141200

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Genetics
Subject Areas
All Articles
  • Animal Behavior and Cognition (4667)
  • Biochemistry (10332)
  • Bioengineering (7650)
  • Bioinformatics (26277)
  • Biophysics (13495)
  • Cancer Biology (10663)
  • Cell Biology (15388)
  • Clinical Trials (138)
  • Developmental Biology (8477)
  • Ecology (12797)
  • Epidemiology (2067)
  • Evolutionary Biology (16816)
  • Genetics (11378)
  • Genomics (15450)
  • Immunology (10591)
  • Microbiology (25139)
  • Molecular Biology (10186)
  • Neuroscience (54314)
  • Paleontology (399)
  • Pathology (1663)
  • Pharmacology and Toxicology (2889)
  • Physiology (4331)
  • Plant Biology (9223)
  • Scientific Communication and Education (1585)
  • Synthetic Biology (2551)
  • Systems Biology (6768)
  • Zoology (1459)