Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Identifieur interne : 003936 ( Pmc/Curation ); précédent : 003935; suivant : 003937Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Auteurs : Karine Poirier [France] ; Nicolas Lebrun [France] ; Loic Broix [France] ; Guoling Tian [États-Unis] ; Yoann Saillour [France] ; Cécile Boscheron [France] ; Elena Parrini [Italie] ; Stephanie Valence [France] ; Benjamin Saintpierre [France] ; Madison Oger [France] ; Didier Lacombe [France] ; David Geneviève [France] ; Elena Fontana [Italie] ; Franscesca Darra [Italie] ; Claude Cances [France] ; Magalie Barth [France] ; Dominique Bonneau [France] ; Bernardo Dalla Bernadina [Italie] ; Sylvie N Uyen [France] ; Cyril Gitiaux [France] ; Philippe Parent [France] ; Vincent Des Portes [France] ; Jean Michel Pedespan [France] ; Victoire Legrez [France] ; Laetitia Castelnau-Ptakine [France] ; Patrick Nitschke [France] ; Thierry Hieu [France] ; Cecile Masson [France] ; Diana Zelenika [France] ; Annie Andrieux [France] ; Fiona Francis [France] ; Renzo Guerrini [Italie] ; Nicholas J. Cowan [États-Unis] ; Nadia Bahi-Buisson [France] ; Jamel Chelly [France]Source :
- Nature genetics [ 1061-4036 ] ; 2013.
Abstract
The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple disease-causing missense mutations in
Url:
DOI: 10.1038/ng.2613
PubMed: 23603762
PubMed Central: 3826256
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Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Valence, Stephanie" sort="Valence, Stephanie" uniqKey="Valence S" first="Stephanie" last="Valence">Stephanie Valence</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Saintpierre, Benjamin" sort="Saintpierre, Benjamin" uniqKey="Saintpierre B" first="Benjamin" last="Saintpierre">Benjamin Saintpierre</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country 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Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Medical Genetics, CHU Pellegrin, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Pellegrin, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Fontana, Elena" sort="Fontana, Elena" uniqKey="Fontana E" first="Elena" last="Fontana">Elena Fontana</name><affiliation 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France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Pédiatrie, CHU Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><affiliation wicri:level="1"><nlm:aff id="A11">INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Service de génétique CHU Angers, Angers, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de génétique CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><affiliation wicri:level="1"><nlm:aff id="A11">INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Service de génétique CHU Angers, Angers, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de génétique CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Bernadina, Bernardo Dalla" sort="Bernadina, Bernardo Dalla" uniqKey="Bernadina B" first="Bernardo Dalla" last="Bernadina">Bernardo Dalla Bernadina</name><affiliation wicri:level="1"><nlm:aff id="A9">UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona</wicri:regionArea></affiliation></author><author><name sortKey="N Uyen, Sylvie" sort="N Uyen, Sylvie" uniqKey="N Uyen S" first="Sylvie" last="N Uyen">Sylvie N Uyen</name><affiliation wicri:level="1"><nlm:aff id="A13">Clinique Médicale Pédiatrique, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinique Médicale Pédiatrique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes</wicri:regionArea></affiliation></author><author><name sortKey="Parent, Philippe" sort="Parent, Philippe" uniqKey="Parent P" first="Philippe" last="Parent">Philippe Parent</name><affiliation wicri:level="1"><nlm:aff id="A15">Service de Pédiatrie et Génétique Médicale, Brest, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie et Génétique Médicale, Brest</wicri:regionArea></affiliation></author><author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name><affiliation wicri:level="1"><nlm:aff id="A16">Centre de référence déficiences intellectuelles de causes rares, CHU Lyon, Université Lyon1, L2C2 CNRS, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence déficiences intellectuelles de causes rares, CHU Lyon, Université Lyon1, L2C2 CNRS, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean Michel" last="Pedespan">Jean Michel Pedespan</name><affiliation wicri:level="1"><nlm:aff id="A17">Service de Pédiatrie, CHU Pellegrin, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, CHU Pellegrin, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Legrez, Victoire" sort="Legrez, Victoire" uniqKey="Legrez V" first="Victoire" last="Legrez">Victoire Legrez</name><affiliation wicri:level="1"><nlm:aff id="A18">CHU Bicetre Service Neuropediatrie, Le Kremlin Bicetre, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>CHU Bicetre Service Neuropediatrie, Le Kremlin Bicetre</wicri:regionArea></affiliation></author><author><name sortKey="Castelnau Ptakine, Laetitia" sort="Castelnau Ptakine, Laetitia" uniqKey="Castelnau Ptakine L" first="Laetitia" last="Castelnau-Ptakine">Laetitia Castelnau-Ptakine</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation wicri:level="1"><nlm:aff id="A19">Bioinformatics plateform, Université Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics plateform, Université Paris Descartes, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Hieu, Thierry" sort="Hieu, Thierry" uniqKey="Hieu T" first="Thierry" last="Hieu">Thierry Hieu</name><affiliation wicri:level="1"><nlm:aff id="A19">Bioinformatics plateform, Université Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics plateform, Université Paris Descartes, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cecile" last="Masson">Cecile Masson</name><affiliation wicri:level="1"><nlm:aff id="A19">Bioinformatics plateform, Université Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics plateform, Université Paris Descartes, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation wicri:level="1"><nlm:aff id="A20">Centre National de Génotypage (CNG), Evry, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre National de Génotypage (CNG), Evry</wicri:regionArea></affiliation></author><author><name sortKey="Andrieux, Annie" sort="Andrieux, Annie" uniqKey="Andrieux A" first="Annie" last="Andrieux">Annie Andrieux</name><affiliation wicri:level="1"><nlm:aff id="A4">Institut des Neurosciences, Inserm, U836, Université Joseph Fourier – Grenoble 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut des Neurosciences, Inserm, U836, Université Joseph Fourier – Grenoble 1</wicri:regionArea></affiliation></author><author><name sortKey="Francis, Fiona" sort="Francis, Fiona" uniqKey="Francis F" first="Fiona" last="Francis">Fiona Francis</name><affiliation wicri:level="1"><nlm:aff id="A21">INSERM - Institut du Fer à Moulin, Paris, F75005, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM - Institut du Fer à Moulin, Paris, F75005</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A22">Université Pierre et Marie Curie, Paris F75005, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre et Marie Curie, Paris F75005</wicri:regionArea></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:aff id="A5">Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer-University of Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer-University of Florence</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">IRCCS Stella Maris Foundation. Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Stella Maris Foundation. Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Cowan, Nicholas J" sort="Cowan, Nicholas J" uniqKey="Cowan N" first="Nicholas J." last="Cowan">Nicholas J. Cowan</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23603762</idno><idno type="pmc">3826256</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826256</idno><idno type="RBID">PMC:3826256</idno><idno type="doi">10.1038/ng.2613</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">003937</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003937</idno><idno type="wicri:Area/Pmc/Curation">003936</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003936</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly</title><author><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Lebrun, Nicolas" sort="Lebrun, Nicolas" uniqKey="Lebrun N" first="Nicolas" last="Lebrun">Nicolas Lebrun</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Broix, Loic" sort="Broix, Loic" uniqKey="Broix L" first="Loic" last="Broix">Loic Broix</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tian, Guoling" sort="Tian, Guoling" uniqKey="Tian G" first="Guoling" last="Tian">Guoling Tian</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Saillour, Yoann" sort="Saillour, Yoann" uniqKey="Saillour Y" first="Yoann" last="Saillour">Yoann Saillour</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Boscheron, Cecile" sort="Boscheron, Cecile" uniqKey="Boscheron C" first="Cécile" last="Boscheron">Cécile Boscheron</name><affiliation wicri:level="1"><nlm:aff id="A4">Institut des Neurosciences, Inserm, U836, Université Joseph Fourier – Grenoble 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut des Neurosciences, Inserm, U836, Université Joseph Fourier – Grenoble 1</wicri:regionArea></affiliation></author><author><name sortKey="Parrini, Elena" sort="Parrini, Elena" uniqKey="Parrini E" first="Elena" last="Parrini">Elena Parrini</name><affiliation wicri:level="1"><nlm:aff id="A5">Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer-University of Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer-University of Florence</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">IRCCS Stella Maris Foundation. Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Stella Maris Foundation. Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Valence, Stephanie" sort="Valence, Stephanie" uniqKey="Valence S" first="Stephanie" last="Valence">Stephanie Valence</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Saintpierre, Benjamin" sort="Saintpierre, Benjamin" uniqKey="Saintpierre B" first="Benjamin" last="Saintpierre">Benjamin Saintpierre</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Oger, Madison" sort="Oger, Madison" uniqKey="Oger M" first="Madison" last="Oger">Madison Oger</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Medical Genetics, CHU Pellegrin, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Pellegrin, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Fontana, Elena" sort="Fontana, Elena" uniqKey="Fontana E" first="Elena" last="Fontana">Elena Fontana</name><affiliation wicri:level="1"><nlm:aff id="A9">UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona</wicri:regionArea></affiliation></author><author><name sortKey="Darra, Franscesca" sort="Darra, Franscesca" uniqKey="Darra F" first="Franscesca" last="Darra">Franscesca Darra</name><affiliation wicri:level="1"><nlm:aff id="A9">UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona</wicri:regionArea></affiliation></author><author><name sortKey="Cances, Claude" sort="Cances, Claude" uniqKey="Cances C" first="Claude" last="Cances">Claude Cances</name><affiliation wicri:level="1"><nlm:aff id="A10">Département de Pédiatrie, CHU Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Pédiatrie, CHU Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><affiliation wicri:level="1"><nlm:aff id="A11">INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Service de génétique CHU Angers, Angers, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de génétique CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><affiliation wicri:level="1"><nlm:aff id="A11">INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Service de génétique CHU Angers, Angers, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de génétique CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Bernadina, Bernardo Dalla" sort="Bernadina, Bernardo Dalla" uniqKey="Bernadina B" first="Bernardo Dalla" last="Bernadina">Bernardo Dalla Bernadina</name><affiliation wicri:level="1"><nlm:aff id="A9">UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona</wicri:regionArea></affiliation></author><author><name sortKey="N Uyen, Sylvie" sort="N Uyen, Sylvie" uniqKey="N Uyen S" first="Sylvie" last="N Uyen">Sylvie N Uyen</name><affiliation wicri:level="1"><nlm:aff id="A13">Clinique Médicale Pédiatrique, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinique Médicale Pédiatrique, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes</wicri:regionArea></affiliation></author><author><name sortKey="Parent, Philippe" sort="Parent, Philippe" uniqKey="Parent P" first="Philippe" last="Parent">Philippe Parent</name><affiliation wicri:level="1"><nlm:aff id="A15">Service de Pédiatrie et Génétique Médicale, Brest, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie et Génétique Médicale, Brest</wicri:regionArea></affiliation></author><author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name><affiliation wicri:level="1"><nlm:aff id="A16">Centre de référence déficiences intellectuelles de causes rares, CHU Lyon, Université Lyon1, L2C2 CNRS, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence déficiences intellectuelles de causes rares, CHU Lyon, Université Lyon1, L2C2 CNRS, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean Michel" last="Pedespan">Jean Michel Pedespan</name><affiliation wicri:level="1"><nlm:aff id="A17">Service de Pédiatrie, CHU Pellegrin, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, CHU Pellegrin, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Legrez, Victoire" sort="Legrez, Victoire" uniqKey="Legrez V" first="Victoire" last="Legrez">Victoire Legrez</name><affiliation wicri:level="1"><nlm:aff id="A18">CHU Bicetre Service Neuropediatrie, Le Kremlin Bicetre, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>CHU Bicetre Service Neuropediatrie, Le Kremlin Bicetre</wicri:regionArea></affiliation></author><author><name sortKey="Castelnau Ptakine, Laetitia" sort="Castelnau Ptakine, Laetitia" uniqKey="Castelnau Ptakine L" first="Laetitia" last="Castelnau-Ptakine">Laetitia Castelnau-Ptakine</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation wicri:level="1"><nlm:aff id="A19">Bioinformatics plateform, Université Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics plateform, Université Paris Descartes, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Hieu, Thierry" sort="Hieu, Thierry" uniqKey="Hieu T" first="Thierry" last="Hieu">Thierry Hieu</name><affiliation wicri:level="1"><nlm:aff id="A19">Bioinformatics plateform, Université Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics plateform, Université Paris Descartes, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cecile" last="Masson">Cecile Masson</name><affiliation wicri:level="1"><nlm:aff id="A19">Bioinformatics plateform, Université Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics plateform, Université Paris Descartes, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation wicri:level="1"><nlm:aff id="A20">Centre National de Génotypage (CNG), Evry, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre National de Génotypage (CNG), Evry</wicri:regionArea></affiliation></author><author><name sortKey="Andrieux, Annie" sort="Andrieux, Annie" uniqKey="Andrieux A" first="Annie" last="Andrieux">Annie Andrieux</name><affiliation wicri:level="1"><nlm:aff id="A4">Institut des Neurosciences, Inserm, U836, Université Joseph Fourier – Grenoble 1, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut des Neurosciences, Inserm, U836, Université Joseph Fourier – Grenoble 1</wicri:regionArea></affiliation></author><author><name sortKey="Francis, Fiona" sort="Francis, Fiona" uniqKey="Francis F" first="Fiona" last="Francis">Fiona Francis</name><affiliation wicri:level="1"><nlm:aff id="A21">INSERM - Institut du Fer à Moulin, Paris, F75005, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM - Institut du Fer à Moulin, Paris, F75005</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A22">Université Pierre et Marie Curie, Paris F75005, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre et Marie Curie, Paris F75005</wicri:regionArea></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:aff id="A5">Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer-University of Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer-University of Florence</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">IRCCS Stella Maris Foundation. Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Stella Maris Foundation. Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Cowan, Nicholas J" sort="Cowan, Nicholas J" uniqKey="Cowan N" first="Nicholas J." last="Cowan">Nicholas J. Cowan</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="A1">Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple disease-causing missense mutations in <italic>TUBG1, DYNC1H1</italic> and <italic>KIF2A</italic>, as well as a single germline mosaic mutation in <italic>KIF5C</italic>. We find a frequent recurrence of mutations in <italic>DYNC1H1</italic>, implying that this gene is a major locus implicated in unexplained MCD. The mutations in <italic>KIF5C, KIF2A</italic> and <italic>DYNC1H1</italic> drastically affect ATP hydrolysis, productive protein folding or microtubule binding, while suppression of <italic>Tubg1</italic> expression <italic>in vivo</italic> interferes with proper neuronal migration and expression of <italic>Tubg1</italic> mutations in <italic>S. cerevisiae</italic> results in disruption of normal microtubule behaviour. Our data reinforce the importance of centrosome- and microtubule-related proteins in cortical development and strongly suggest that microtubule-dependent mitotic and post-mitotic processes are major contributors to the pathogenesis of MCD.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23603762</article-id><article-id pub-id-type="pmc">3826256</article-id><article-id pub-id-type="doi">10.1038/ng.2613</article-id><article-id pub-id-type="manuscript">NIHMS522855</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Poirier</surname><given-names>Karine</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lebrun</surname><given-names>Nicolas</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Broix</surname><given-names>Loic</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Tian</surname><given-names>Guoling</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Saillour</surname><given-names>Yoann</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Boscheron</surname><given-names>Cécile</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Parrini</surname><given-names>Elena</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Valence</surname><given-names>Stephanie</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>SaintPierre</surname><given-names>Benjamin</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Oger</surname><given-names>Madison</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lacombe</surname><given-names>Didier</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Geneviève</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Fontana</surname><given-names>Elena</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Darra</surname><given-names>Franscesca</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Cances</surname><given-names>Claude</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Barth</surname><given-names>Magalie</given-names></name><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Bonneau</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Bernadina</surname><given-names>Bernardo Dalla</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>N’Guyen</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Gitiaux</surname><given-names>Cyril</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Parent</surname><given-names>Philippe</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>des Portes</surname><given-names>Vincent</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Pedespan</surname><given-names>Jean Michel</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Legrez</surname><given-names>Victoire</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Castelnau-Ptakine</surname><given-names>Laetitia</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Nitschke</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Hieu</surname><given-names>Thierry</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Masson</surname><given-names>Cecile</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Zelenika</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Andrieux</surname><given-names>Annie</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Francis</surname><given-names>Fiona</given-names></name><xref ref-type="aff" rid="A21">21</xref><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Guerrini</surname><given-names>Renzo</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Cowan</surname><given-names>Nicholas J.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bahi-Buisson</surname><given-names>Nadia</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A14">14</xref><xref rid="FN2" ref-type="author-notes">**</xref></contrib><contrib contrib-type="author"><name><surname>Chelly</surname><given-names>Jamel</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref rid="FN2" ref-type="author-notes">**</xref></contrib></contrib-group><aff id="A1"><label>1</label>Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France</aff><aff id="A2"><label>2</label>Inserm, U1016, Paris, France</aff><aff id="A3"><label>3</label>Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016</aff><aff id="A4"><label>4</label>Institut des Neurosciences, Inserm, U836, Université Joseph Fourier – Grenoble 1, France</aff><aff id="A5"><label>5</label>Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer-University of Florence, Italy</aff><aff id="A6"><label>6</label>IRCCS Stella Maris Foundation. Pisa, Italy</aff><aff id="A7"><label>7</label>Department of Medical Genetics, CHU Pellegrin, Bordeaux, France</aff><aff id="A8"><label>8</label>Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier, France</aff><aff id="A9"><label>9</label>UOC di Neuropsichiatria Infantile, Azienda Ospedaliera Univesritaria di Verona, Italy</aff><aff id="A10"><label>10</label>Département de Pédiatrie, CHU Toulouse, France</aff><aff id="A11"><label>11</label>INSERM: U694, Université d’Angers, CHU 4, Rue Larrey 49033 Angers Cedex, France</aff><aff id="A12"><label>12</label>Service de génétique CHU Angers, Angers, France</aff><aff id="A13"><label>13</label>Clinique Médicale Pédiatrique, CHU de Nantes, Nantes, France</aff><aff id="A14"><label>14</label>Unité de Neurologie Pédiatrique, Hôpital Necker Enfants Malades, Université Paris Descartes, France</aff><aff id="A15"><label>15</label>Service de Pédiatrie et Génétique Médicale, Brest, France</aff><aff id="A16"><label>16</label>Centre de référence déficiences intellectuelles de causes rares, CHU Lyon, Université Lyon1, L2C2 CNRS, Bron, France</aff><aff id="A17"><label>17</label>Service de Pédiatrie, CHU Pellegrin, Bordeaux, France</aff><aff id="A18"><label>18</label>CHU Bicetre Service Neuropediatrie, Le Kremlin Bicetre, France</aff><aff id="A19"><label>19</label>Bioinformatics plateform, Université Paris Descartes, Paris, France</aff><aff id="A20"><label>20</label>Centre National de Génotypage (CNG), Evry, France</aff><aff id="A21"><label>21</label>INSERM - Institut du Fer à Moulin, Paris, F75005, France</aff><aff id="A22"><label>22</label>Université Pierre et Marie Curie, Paris F75005, France</aff><author-notes><corresp id="FN1">Corresponding authors: Jamel Chelly, Institut Cochin – Genetics and pathophysiology of neurodevelopmental disorders, CHU Cochin, 24 Rue du Faubourg Saint Jacques, 75014 Paris, 33 1 44 41 24 10, <email>jamel.chelly@inserm.fr</email>. Nicholas J. Cowan, Department of Biochemistry and Molecular Pharmacology, New York University Langone Medical Center, 550 First Avenue, New York NY 10016. USA, <email>Nicholas.Cowan@nyumc.org</email></corresp><fn id="FN2" fn-type="equal"><label>* and**</label><p>Equal contribution</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>5</day><month>11</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>21</day><month>4</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>6</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>13</day><month>11</month><year>2013</year></pub-date><volume>45</volume><issue>6</issue><elocation-id>10.1038/ng.2613</elocation-id><abstract><p id="P1">The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple disease-causing missense mutations in <italic>TUBG1, DYNC1H1</italic> and <italic>KIF2A</italic>, as well as a single germline mosaic mutation in <italic>KIF5C</italic>. We find a frequent recurrence of mutations in <italic>DYNC1H1</italic>, implying that this gene is a major locus implicated in unexplained MCD. The mutations in <italic>KIF5C, KIF2A</italic> and <italic>DYNC1H1</italic> drastically affect ATP hydrolysis, productive protein folding or microtubule binding, while suppression of <italic>Tubg1</italic> expression <italic>in vivo</italic> interferes with proper neuronal migration and expression of <italic>Tubg1</italic> mutations in <italic>S. cerevisiae</italic> results in disruption of normal microtubule behaviour. Our data reinforce the importance of centrosome- and microtubule-related proteins in cortical development and strongly suggest that microtubule-dependent mitotic and post-mitotic processes are major contributors to the pathogenesis of MCD.</p></abstract><funding-group><award-group><funding-source country="United States">National Institute of General Medical Sciences : NIGMS</funding-source><award-id>R01 GM097376 || GM</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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