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Autosomal recessive primary microcephaly due to ASPM mutations: An update.

  • Létard P PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Drunat S PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Vial Y PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Duerinckx S Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Ernault A Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France.
  • Amram D Unité de Génétique Clinique, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
  • Arpin S Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
  • Bertoli M Northern Genetics Service, Newcastle upon Tyne NHS Trust,  Newcastle upon Tyne, UK.
  • Busa T Service de Génétique Clinique, AP-HM, Hôpital Universitaire Timone Enfants, Marseille, France.
  • Ceulemans B Department of Pediatric Neurology, University Hospital and University of Antwerp, Antwerp, Belgium.
  • Desir J Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Doco-Fenzy M Service de Génétique, Centre Hospitalier Universitaire de Reims, Hôpital Maison blanche, et EA3801 SFR CAPSANTE, Reims, France.
  • Elalaoui SC Centre de Génomique Humaine, Faculté de médecine te de Pharmacie de Rabat, Université Mohamed V, Rabat, Morocco.
  • Devriendt K Center for Human Genetics, University of Leuven, Leuven, Belgium.
  • Faivre L Service de Génétique Médicale et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France.
  • Francannet C Service de Génétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
  • Geneviève D Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Gérard M Service de Génétique Clinique, Centre Hospitalier Universitaire de Caen, Caen, France.
  • Gitiaux C Département de neurologie pédiatrique, Hôpital Universitaire Necker Enfants Malades, APHP, Paris, France.
  • Julia S Service de génétique médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
  • Lebon S Unité de neuropédiatrie et neuroréhabilitation pédiatrique, Département Femme Mère Enfant, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Lubala T Department of Pediatrics, Sendwe University Hospitals, University of Lubumbashi, Lumbumbashi, DR Congo.
  • Mathieu-Dramard M Centre d'Activité Génétique Clinique et Oncogénétique, Centre Hospitalier Universitaire d'Amiens, Amiens, France.
  • Maurey H Service de neurologie pédiatrique, Hôpital Universitaire Bicêtre, Le Kremlin-Bicêtre, APHP, France.
  • Metreau J Service de neurologie pédiatrique, Hôpital Universitaire Bicêtre, Le Kremlin-Bicêtre, APHP, France.
  • Nasserereddine S Laboratoire de génétique et pathologie moléculaire, Centre Hospitalier Universitaire Ibn Rochd, Casablanca, Morocco.
  • Nizon M Département de Génétique, Centre Hospitalier Universitaire de Nantes, Nantes, France.
  • Pierquin G Département de Génétique, Centre Hospitalier Universitaire de Liège, Liège, Belgique.
  • Pouvreau N PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Rivier-Ringenbach C Service de pédiatrie, Hôpital Nord Ouest-Villefranche, Gleize, France.
  • Rossi M Département de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Schaefer E Service de Génétique Médicale, Centre Hospitalier Universitaire de Strasbourg, Strasbourg, France.
  • Sefiani A Centre de Génomique Humaine, Faculté de médecine te de Pharmacie de Rabat, Université Mohamed V, Rabat, Morocco.
  • Sigaudy S Service de Génétique Clinique, AP-HM, Hôpital Universitaire Timone Enfants, Marseille, France.
  • Sznajer Y Centre for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
  • Tunca Y Department of Medical Genetics,  Gulhane School of Medicine, Gulhane Training and Research Hospital, University of Health Sciences, Etlik, Ankara, Turkey.
  • Guilmin Crepon S Unité d'Epidémiologie Clinique, Hôpital Universitaire Robert Debré, APHP, Paris, France.
  • Alberti C Unité d'Epidémiologie Clinique, Hôpital Universitaire Robert Debré, APHP, Paris, France.
  • Elmaleh-Bergès M Service de radiologie, Hôpital Universitaire Robert Debré, APHP, Paris, France.
  • Benzacken B PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Wollnick B Institut für Humangenetik, Universität Göttingen, Göttingen, Deutschland.
  • Woods CG University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, United Kingdom.
  • Rauch A Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Abramowicz M Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • El Ghouzzi V PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Gressens P PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Verloes A PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Passemard S PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
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  • 2017-12-16
Published in:
  • Human mutation. - 2018
ASPM
MCPH
brain development
brain imaging
centrosome
intellectual disability
primary microcephaly
Child, Preschool
Cognition
Cohort Studies
Family
Female
Genetic Association Studies
Geography
Humans
Infant
Magnetic Resonance Imaging
Male
Microcephaly
Mutation
Nerve Tissue Proteins
English Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The abnormal spindle-like microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster "abnormal spindle" gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss-of-function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological, and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM-related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities.
Language
  • English
Open access status
green
Identifiers
Persistent URL
https://sonar.ch/global/documents/50728
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