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Genome sequencing identifies major causes of severe intellectual disability

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  • Christian Gilissen

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Jayne Y. Hehir-Kwa

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Djie Tjwan Thung

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Maartje van de Vorst

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Bregje W. M. van Bon

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Marjolein H. Willemsen

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Michael Kwint

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Irene M. Janssen

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Alexander Hoischen

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Annette Schenck

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Richard Leach

    (Complete Genomics Inc. 2071 Stierlin Court)

  • Robert Klein

    (Complete Genomics Inc. 2071 Stierlin Court)

  • Rick Tearle

    (Complete Genomics Inc. 2071 Stierlin Court)

  • Tan Bo

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands
    State Key Laboratory of Medical Genetics, Central South University. 110 Xiangya Road, Changsha, Hunan 410078, China)

  • Rolph Pfundt

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Helger G. Yntema

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Bert B. A. de Vries

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Tjitske Kleefstra

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Han G. Brunner

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands
    Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands)

  • Lisenka E. L. M. Vissers

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands)

  • Joris A. Veltman

    (Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands
    Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands)

Abstract

Whole-genome sequencing is used to identify genetic alterations in patients with severe intellectual disability for whom all other tests, including array and exome sequencing, returned negative results; de novo single-nucleotide and copy number variations affecting the coding region seem to be a major cause of this disorder.

Suggested Citation

  • Christian Gilissen & Jayne Y. Hehir-Kwa & Djie Tjwan Thung & Maartje van de Vorst & Bregje W. M. van Bon & Marjolein H. Willemsen & Michael Kwint & Irene M. Janssen & Alexander Hoischen & Annette Sche, 2014. "Genome sequencing identifies major causes of severe intellectual disability," Nature, Nature, vol. 511(7509), pages 344-347, July.
    • Handle: RePEc:nat:nature:v:511:y:2014:i:7509:d:10.1038_nature13394
    DOI: 10.1038/nature13394
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    Citations

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    Cited by:

    1. Dragojlovic, Nick & Kopac, Nicola & Borle, Kennedy & Tandun, Rachel & Salmasi, Shahrzad & Ellis, Ursula & Birch, Patricia & Adam, Shelin & Friedman, Jan M. & Elliott, Alison M. & Lynd, Larry D., 2021. "Utilization and uptake of clinical genetics services in high-income countries: A scoping review," Health Policy, Elsevier, vol. 125(7), pages 877-887.
    2. Arthur S. Lee & Lauren J. Ayers & Michael Kosicki & Wai-Man Chan & Lydia N. Fozo & Brandon M. Pratt & Thomas E. Collins & Boxun Zhao & Matthew F. Rose & Alba Sanchis-Juan & Jack M. Fu & Isaac Wong & X, 2024. "A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders," Nature Communications, Nature, vol. 15(1), pages 1-26, December.
    3. Dang Ton Nguyen & Hai Ha Nguyen & Thuy Duong Nguyen & Thi Thanh Hoa Nguyen & Kaoru Nakano & Kazuhiro Maejima & Aya Sasaki-Oku & Van Ba Nguyen & Duy Bac Nguyen & Bach Quang Le & Jing Hao Wong & Tatsuhi, 2018. "Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability," IJERPH, MDPI, vol. 15(12), pages 1-11, November.
    4. 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.

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