title: Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
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.
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.|Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Julia Lauer
authors.initials: JL
authors.lastname: Zillhardt
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Poirier
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.|Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France.
authors.forename: Loïc
authors.initials: L
authors.lastname: Broix
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lebrun
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.
authors.forename: Adrienne
authors.initials: A
authors.lastname: Elmorjani
authors.affiliation: Unité de fœtopathologie, Hôpital Antoine Béclère, Hôpitaux Universitaires Paris-Sud, AP-HP, Clamart, France.
authors.forename: Jelena
authors.initials: J
authors.lastname: Martinovic
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.
authors.forename: Yoann
authors.initials: Y
authors.lastname: Saillour
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Muraca
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.|Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, AP-HP, Paris, France.
authors.forename: Juliette
authors.initials: J
authors.lastname: Nectoux
authors.affiliation: Laboratoire d'Histo-Embryologie et Cytogénétique, Institut Imagine, INSERM U-1163, Hôpital Necker, AP-HP, Paris, France.
authors.forename: Bettina
authors.initials: B
authors.lastname: Bessieres
authors.affiliation: Université de Montréal-CHU Sainte Justine, Montréal, Quebec, Canada.|Département de Pathologie et Neuropathologie, CHU Sainte-Justine- Montréal, Montréal, Quebec, Canada.
authors.forename: Catherine
authors.initials: C
authors.lastname: Fallet-Bianco
authors.affiliation: Service de génétique médicale, Institut Imagine, INSERM U1163, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.affiliation: INSERM U1129 'Infantile Epilepsies and Brain Plasticity', Paris Descartes University, Paris, France.|CEA, Gif sur Yvette, France.|Paediatric Neurosurgery department, Rothschild Foundation, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
authors.affiliation: Service de Génétique Clinique, Centre de référence 'Maladies Rares' CLAD-Ouest, Hôpital SUD, CHU de Rennes, Rennes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.affiliation: Service des maladies congénitales héréditaires, CHU Mongi Slim, La Marsa, Tunisie.
authors.forename: Imen
authors.initials: I
authors.lastname: Rejeb
authors.affiliation: Service des maladies congénitales héréditaires, CHU Mongi Slim, La Marsa, Tunisie.
authors.forename: Lamia
authors.initials: L
authors.lastname: Ben Jemaa
authors.affiliation: Unité de Neuropédiatrie et d'épileptologie infantile CHRU de Montpellier, Montpellier, France.
authors.forename: Francois
authors.initials: F
authors.lastname: Rivier
authors.affiliation: Département de génétique médicale, service des maladies génétiques de l'enfant et de l'adulte, INSERM U844, CHRU de Montpellier, Montpellier, France.
authors.forename: Lucile
authors.initials: L
authors.lastname: Pinson
authors.affiliation: Département de génétique médicale, service des maladies génétiques de l'enfant et de l'adulte, INSERM U844, CHRU de Montpellier, Montpellier, France.
authors.forename: David
authors.initials: D
authors.lastname: Geneviève
authors.affiliation: Département de pathologie tissulaire et cellulaire des tumeurs, Pôle Biologie Pathologie, Hôpital Gui de Chauliac, CHRU de Montpellier, Montpellier, France.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Musizzano
authors.affiliation: Département de génétique médicale, Unité de foetopathologie, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Bigi
authors.affiliation: Unité de neuroradiologie, Service de neuroradiologie interventionnelle CHRU de Montpellier, Montpellier, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Leboucq
authors.affiliation: Unité de génétique médicale, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, Hôpital l'Archet 2, CHU de Nice, Nice, France.
authors.forename: Fabienne
authors.initials: F
authors.lastname: Giuliano
authors.affiliation: Centre de référence CLAD -PACA, Département de génétique médicale, Hôpital d'enfant de la Timone, APHM, Marseille, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.affiliation: Service de génétique médicale, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
authors.forename: Catheline
authors.initials: C
authors.lastname: Vilain
authors.affiliation: Clinique de neurologie pédiatrique, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
authors.forename: Patrick
authors.initials: P
authors.lastname: Van Bogaert
authors.affiliation: Service de Neurologie pédiatrique, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, AP-HP, Le Kremlin-Bicêtre, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Maurey
authors.affiliation: Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, AP-HP, Paris, France.
authors.forename: Cherif
authors.initials: C
authors.lastname: Beldjord
authors.affiliation: CEA/Institut de Génomique, Centre National de Génotypage, Evry, France.
authors.forename: François
authors.initials: F
authors.lastname: Artiguenave
authors.affiliation: CEA/Institut de Génomique, Centre National de Génotypage, Evry, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Boland
authors.affiliation: CEA/Institut de Génomique, Centre National de Génotypage, Evry, France.
authors.forename: Robert
authors.initials: R
authors.lastname: Olaso
authors.affiliation: Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Masson
authors.affiliation: Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Nitschké
authors.affiliation: CEA/Institut de Génomique, Centre National de Génotypage, Evry, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Deleuze
authors.affiliation: Neurologie pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France.|Institut Imagine, INSERM UMR1163- Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.affiliation: Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.|INSERM U1016, Paris, France.|Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.|Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France.
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
mesh_terms: D000328:Adult; D059472:Exome; D005260:Female; D056426:Genetic Loci; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics*; D009030:Mosaicism; D010375:Pedigree; D050765:Qa-SNARE Proteins / Q000235:genetics
chemical_list: D050765:Qa-SNARE Proteins