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Research Article

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

  • Stefano Lise equal contributor,

    equal contributor Contributed equally to this work with: Stefano Lise, Yvonne Clarkson, Emma Perkins

    Affiliations: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom

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  • Yvonne Clarkson equal contributor,

    equal contributor Contributed equally to this work with: Stefano Lise, Yvonne Clarkson, Emma Perkins

    Affiliation: Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom

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  • Emma Perkins equal contributor,

    equal contributor Contributed equally to this work with: Stefano Lise, Yvonne Clarkson, Emma Perkins

    Affiliation: Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom

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  • Alexandra Kwasniewska,

    Affiliations: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom

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  • Elham Sadighi Akha,

    Affiliations: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom

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  • Ricardo Parolin Schnekenberg,

    Affiliations: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, School of Medicine, Universidade Positivo, Curitiba, Brazil

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  • Daumante Suminaite,

    Affiliation: Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom

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  • Jilly Hope,

    Affiliation: Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom

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  • Ian Baker,

    Affiliation: Russell Cairns Unit, Oxford University Hospitals NHS Trust, Oxford, United Kingdom

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  • Lorna Gregory,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Angie Green,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Chris Allan,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Sarah Lamble,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Sandeep Jayawant,

    Affiliation: Department of Paediatrics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom

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  • Gerardine Quaghebeur,

    Affiliation: Department of Neuroradiology, Oxford University Hospitals NHS Trust, Oxford, United Kingdom

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  • M. Zameel Cader,

    Affiliation: Department of Anatomy, Physiology, and Genetics, University of Oxford, Oxford, United Kingdom

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  • Sarah Hughes,

    Affiliation: Royal Berkshire Foundation Trust Hospital, Reading, United Kingdom

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  • Richard J. E. Armstrong,

    Affiliations: Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom, Royal Berkshire Foundation Trust Hospital, Reading, United Kingdom

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  • Alexander Kanapin,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Andrew Rimmer,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Gerton Lunter,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Iain Mathieson,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Jean-Baptiste Cazier,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • David Buck,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Jenny C. Taylor,

    Affiliations: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom

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  • David Bentley,

    Affiliation: Illumina Cambridge, Saffron Walden, United Kingdom

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  • Gilean McVean,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Peter Donnelly,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Samantha J. L. Knight,

    Affiliations: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom

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  • Mandy Jackson mail,

    mandy.jackson@staffmail.ed.ac.uk (M Jackson); andrea.nemeth@eye.ox.ac.uk (AH Németh)

    Affiliation: Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom

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  • Jiannis Ragoussis,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Andrea H. Németh mail

    mandy.jackson@staffmail.ed.ac.uk (M Jackson); andrea.nemeth@eye.ox.ac.uk (AH Németh)

    Affiliations: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom, Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom

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  • Published: December 06, 2012
  • DOI: 10.1371/journal.pgen.1003074

About the Authors

Stefano Lise, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C. Taylor, Gilean McVean, Peter Donnelly, Samantha J. L. Knight, Jiannis Ragoussis, Andrea H. Németh
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
Stefano Lise, Elham Sadighi Akha, Jenny C. Taylor, Samantha J. L. Knight, Andrea H. Németh
NIHR Biomedical Research Centre Oxford, Oxford, United Kingdom
Yvonne Clarkson, Emma Perkins, Daumante Suminaite, Jilly Hope, Mandy Jackson
Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom
Alexandra Kwasniewska, Richard J. E. Armstrong, Andrea H. Németh
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
Ricardo Parolin Schnekenberg
School of Medicine, Universidade Positivo, Curitiba, Brazil
Ian Baker
Russell Cairns Unit, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
Sandeep Jayawant
Department of Paediatrics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
Gerardine Quaghebeur
Department of Neuroradiology, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
M. Zameel Cader
Department of Anatomy, Physiology, and Genetics, University of Oxford, Oxford, United Kingdom
Sarah Hughes, Richard J. E. Armstrong
Royal Berkshire Foundation Trust Hospital, Reading, United Kingdom
David Bentley
Illumina Cambridge, Saffron Walden, United Kingdom
Andrea H. Németh
Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom

Corresponding Authors

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AH Németh, J Ragoussis, M Jackson, SJL Knight. Performed the experiments: Y Clarkson, E Perkins, A Kwasniewska, SJL Knight, E Sadighi Akha, R Parolin Schnekenberg, D Suminaite, J Hope, I Baker, L Gregory, A Green, C Allan, S Lamble. Analyzed the data: AH Németh. S Lise, M Jackson, Y Clarkson, E Perkins, A Kwasniewska, R Parolin Schnekenberg, J Ragoussis, E Sadighi Akha, SJL Knight, D Suminaite, J Hope, A Kanapin, J-B Cazier. Wrote the paper: AH Németh, S Lise, M Jackson, J Ragoussis. Critical review of manuscript: S Lise, Y Clarkson, E Perkins, A Kwasniewska, E Sadighi Akha, R Parolin Schnekenberg, D Suminaite, J Hope, I Baker, L Gregory, A Green, C Allan, S Lamble, S Jayawant, G Quaghebeur, MZ Cader, S Hughes, RJE Armstrong, A Kanapin, A Rimmer, G Lunter, I Mathieson, J-B Cazier, D Buck, JC Taylor, D Bentley, G McVean, P Donnelly, SJL Knight, M Jackson, J Ragoussis, AH Németh. Clinical review and obtaining data on patients: AH Németh, S Jayawant, G Quaghebeur, MZ Cader, S Hughes, A Rimmer, I Baker. Reviewed neuroimaging: G Quaghebeur. Designed the software used in analysis: A Rimmer, I Mathieson, G Lunter, G McVean. Set up WGS500 project: P Donnelly, D Bentley, G McVean, JC Taylor.