Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-06-19

AUTHORS

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdenek Sedlacek, Gijs W.E. Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael A. Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

ABSTRACT

Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with identical missense mutations. One recurrent site substitution (p.A636T) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology. More... »

PAGES

1043-1051

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  • Journal

    TITLE

    Nature Neuroscience

    ISSUE

    8

    VOLUME

    20

    Author Affiliations

  • Department of Genome Sciences, University of Washington, Seattle, Washington, USA
  • Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA
  • The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
  • Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
  • Robinson Research Institute and the University of Adelaide at the Women’s and Children’s Hospital, North Adelaide, South Australia, Australia
  • SA Pathology, Adelaide, South Australia, Australia
  • South Australian Clinical Genetics Service, SA Pathology (at Women’s and Children’s Hospital), Adelaide, South Australia, Australia
  • School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
  • School of Medicine, University of Adelaide, Adelaide, South Australia, Australia
  • Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
  • Unit of Pediatrics & Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
  • Laboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
  • Unit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
  • University of California, San Diego, Autism Center of Excellence, La Jolla, California, USA
  • Department of Psychiatry, The University of Iowa, Iowa City, Iowa, USA
  • Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
  • Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
  • Centre for Human Genetics, KU Leuven and Leuven Autism Research, Leuven, Belgium
  • Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
  • South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia
  • Howard Hughes Medical Institute, Seattle, Washington, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nn.4589

    DOI

    http://dx.doi.org/10.1038/nn.4589

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1086070786

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28628100


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    670 grid-institutes:grid.430453.5 schema:alternateName South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia
    671 schema:name Robinson Research Institute and the University of Adelaide at the Women’s and Children’s Hospital, North Adelaide, South Australia, Australia
    672 South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia
    673 rdf:type schema:Organization
    674 grid-institutes:grid.5284.b schema:alternateName Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    675 schema:name Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    676 rdf:type schema:Organization
    677 grid-institutes:grid.5596.f schema:alternateName Centre for Human Genetics, KU Leuven and Leuven Autism Research, Leuven, Belgium
    678 schema:name Centre for Human Genetics, KU Leuven and Leuven Autism Research, Leuven, Belgium
    679 rdf:type schema:Organization
     




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