Mosaic parental germline mutations causing recurrent forms of malformations of cortical development View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-09-23

AUTHORS

Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, Nicolas Lebrun, Adrienne Elmorjani, Jelena Martinovic, Yoann Saillour, Giuseppe Muraca, Juliette Nectoux, Bettina Bessieres, Catherine Fallet-Bianco, Stanislas Lyonnet, Olivier Dulac, Sylvie Odent, Imen Rejeb, Lamia Ben Jemaa, Francois Rivier, Lucile Pinson, David Geneviève, Yuri Musizzano, Nicole Bigi, Nicolas Leboucq, Fabienne Giuliano, Nicole Philip, Catheline Vilain, Patrick Van Bogaert, Hélène Maurey, Cherif Beldjord, François Artiguenave, Anne Boland, Robert Olaso, Cécile Masson, Patrick Nitschké, Jean-François Deleuze, Nadia Bahi-Buisson, Jamel Chelly

ABSTRACT

To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD. More... »

PAGES

611-614

Journal

TITLE

European Journal of Human Genetics

ISSUE

4

VOLUME

24

Author Affiliations

  • Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • INSERM U1016, Paris, France
  • Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France
  • Unité de fœtopathologie, Hôpital Antoine Béclère, Hôpitaux Universitaires Paris-Sud, AP-HP, Clamart, France
  • Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, AP-HP, Paris, France
  • Laboratoire d’Histo-Embryologie et Cytogénétique, Institut Imagine, INSERM U-1163, Hôpital Necker, AP-HP, Paris, France
  • Département de Pathologie et Neuropathologie, CHU Sainte-Justine- Montréal, Montréal, Quebec, Canada
  • Service de génétique médicale, Institut Imagine, INSERM U1163, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France
  • Paediatric Neurosurgery department, Rothschild Foundation, Paris, France
  • Service de Génétique Clinique, Centre de référence ‘Maladies Rares’ CLAD-Ouest, Hôpital SUD, CHU de Rennes, Rennes, France
  • Service des maladies congénitales héréditaires, CHU Mongi Slim, La Marsa, Tunisie
  • Unité de Neuropédiatrie et d’épileptologie infantile CHRU de Montpellier, Montpellier, France
  • Département de génétique médicale, service des maladies génétiques de l’enfant et de l’adulte, INSERM U844, CHRU de Montpellier, Montpellier, France
  • Département de pathologie tissulaire et cellulaire des tumeurs, Pôle Biologie Pathologie, Hôpital Gui de Chauliac, CHRU de Montpellier, Montpellier, France
  • Département de génétique médicale, Unité de foetopathologie, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France
  • Unité de neuroradiologie, Service de neuroradiologie interventionnelle CHRU de Montpellier, Montpellier, France
  • Unité de génétique médicale, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, Hôpital l’Archet 2, CHU de Nice, Nice, France
  • Département de génétique médicale, Centre de référence CLAD –PACA, Hôpital d’enfant de la Timone, APHM, Marseille, France
  • Service de génétique médicale, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium
  • Clinique de neurologie pédiatrique, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium
  • Service de Neurologie pédiatrique, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, AP-HP, Le Kremlin-Bicêtre, France
  • CEA/Institut de Génomique, Centre National de Génotypage, Evry, France
  • Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France
  • Institut Imagine, INSERM UMR1163- Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ejhg.2015.192

    DOI

    http://dx.doi.org/10.1038/ejhg.2015.192

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1030071803

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26395554


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