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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Author

Listed:
  • Brian J. O’Roak

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Laura Vives

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Santhosh Girirajan

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Emre Karakoc

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Niklas Krumm

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Bradley P. Coe

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Roie Levy

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Arthur Ko

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Choli Lee

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Joshua D. Smith

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Emily H. Turner

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Ian B. Stanaway

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Benjamin Vernot

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Maika Malig

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Carl Baker

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Beau Reilly

    (University of Washington, Seattle, Washington 98195, USA)

  • Joshua M. Akey

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Elhanan Borenstein

    (University of Washington School of Medicine, Seattle, Washington 98195, USA
    University of Washington, Seattle, Washington 98195, USA
    Santa Fe Institute, Santa Fe, New Mexico 87501, USA)

  • Mark J. Rieder

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Deborah A. Nickerson

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Raphael Bernier

    (University of Washington, Seattle, Washington 98195, USA)

  • Jay Shendure

    (University of Washington School of Medicine, Seattle, Washington 98195, USA)

  • Evan E. Eichler

    (University of Washington School of Medicine, Seattle, Washington 98195, USA
    Howard Hughes Medical Institute, Seattle, Washington 98195, USA)

Abstract

Exome sequencing on a large cohort of parent–child trios with sporadic autism spectrum disorders shows that de novo point mutations are mainly paternal in origin and positively correlate with paternal age, and identifies a highly interconnected network formed from the products of the most severe mutations.

Suggested Citation

  • Brian J. O’Roak & Laura Vives & Santhosh Girirajan & Emre Karakoc & Niklas Krumm & Bradley P. Coe & Roie Levy & Arthur Ko & Choli Lee & Joshua D. Smith & Emily H. Turner & Ian B. Stanaway & Benjamin V, 2012. "Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations," Nature, Nature, vol. 485(7397), pages 246-250, May.
    • Handle: RePEc:nat:nature:v:485:y:2012:i:7397:d:10.1038_nature10989
    DOI: 10.1038/nature10989
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    Citations

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    Cited by:

    1. Li Liu & Aniko Sabo & Benjamin M Neale & Uma Nagaswamy & Christine Stevens & Elaine Lim & Corneliu A Bodea & Donna Muzny & Jeffrey G Reid & Eric Banks & Hillary Coon & Mark DePristo & Huyen Dinh & Tim, 2013. "Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls," PLOS Genetics, Public Library of Science, vol. 9(4), pages 1-15, April.
    2. Tetsushi Sadakata & Yo Shinoda & Akira Sato & Hirotoshi Iguchi & Chiaki Ishii & Makoto Matsuo & Ryosuke Yamaga & Teiichi Furuichi, 2013. "Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants," IJERPH, MDPI, vol. 10(12), pages 1-19, November.
    3. Srirangan Sampath & Shambu Bhat & Simone Gupta & Ashley O’Connor & Andrew B West & Dan E Arking & Aravinda Chakravarti, 2013. "Defining the Contribution of CNTNAP2 to Autism Susceptibility," PLOS ONE, Public Library of Science, vol. 8(10), pages 1-1, October.
    4. Xiaolin Zhu & Raghavendra Padmanabhan & Brett Copeland & Joshua Bridgers & Zhong Ren & Sitharthan Kamalakaran & Ailbhe O'Driscoll-Collins & Samuel F Berkovic & Ingrid E Scheffer & Annapurna Poduri & D, 2017. "A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations," PLOS Genetics, Public Library of Science, vol. 13(11), pages 1-12, November.
    5. Matthew D Shirley & Laurence Frelin & José Soria López & Anne Jedlicka & Amanda Dziedzic & Michelle A Frank-Crawford & Wayne Silverman & Louis Hagopian & Jonathan Pevsner, 2016. "Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior," PLOS ONE, Public Library of Science, vol. 11(3), pages 1-16, March.
    6. Richard Newton & Lorenz Wernisch, 2019. "A meta-analysis of multiple matched aCGH/expression cancer datasets reveals regulatory relationships and pathway enrichment of potential oncogenes," PLOS ONE, Public Library of Science, vol. 14(7), pages 1-28, July.
    7. Idan Menashe & Pascal Grange & Eric C Larsen & Sharmila Banerjee-Basu & Partha P Mitra, 2013. "Co-expression Profiling of Autism Genes in the Mouse Brain," PLOS Computational Biology, Public Library of Science, vol. 9(7), pages 1-10, July.

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