Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Identifieur interne : 000156 ( France/Analysis ); précédent : 000155; suivant : 000157Mutations 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
Affiliations:
- France, Italie, États-Unis
- Aquitaine, Languedoc-Roussillon, Nouvelle-Aquitaine, Occitanie (région administrative), Pays de la Loire, Région Bretagne, État de New York, Île-de-France
- Angers, Bordeaux, Brest, Montpellier, Nantes, Paris, Évry (Essonne)
- Sorbonne Paris Cité, Université Montpellier 1, Université Paris-Descartes, Université Pierre-et-Marie-Curie
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PMC:3826256Le document en format XML
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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><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion></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><wicri:noRegion>Children’s Hospital A. Meyer-University of Florence</wicri:noRegion></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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Saintpierre, Benjamin" sort="Saintpierre, Benjamin" uniqKey="Saintpierre B" first="Benjamin" last="Saintpierre">Benjamin Saintpierre</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Oger, Madison" sort="Oger, Madison" uniqKey="Oger M" first="Madison" last="Oger">Madison Oger</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="3"><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><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation wicri:level="4"><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><wicri:noRegion>34000 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName></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><wicri:noRegion>Azienda Ospedaliera Univesritaria di Verona</wicri:noRegion></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><wicri:noRegion>Azienda Ospedaliera Univesritaria di Verona</wicri:noRegion></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><wicri:noRegion>CHU Toulouse</wicri:noRegion><wicri:noRegion>CHU Toulouse</wicri:noRegion></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><wicri:noRegion>49033 Angers Cedex</wicri:noRegion><wicri:noRegion>49033 Angers Cedex</wicri:noRegion></affiliation><affiliation wicri:level="3"><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><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></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><wicri:noRegion>49033 Angers Cedex</wicri:noRegion><wicri:noRegion>49033 Angers Cedex</wicri:noRegion></affiliation><affiliation wicri:level="3"><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><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></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><wicri:noRegion>Azienda Ospedaliera Univesritaria di Verona</wicri:noRegion></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="3"><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><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="4"><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><wicri:noRegion>Université Paris Descartes</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="university">Université Paris-Descartes</orgName><orgName type="institution" wicri:auto="newGroup">Sorbonne Paris Cité</orgName></affiliation></author><author><name sortKey="Parent, Philippe" sort="Parent, Philippe" uniqKey="Parent P" first="Philippe" last="Parent">Philippe Parent</name><affiliation wicri:level="3"><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><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Brest</settlement></placeName></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><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></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="3"><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><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></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><wicri:noRegion>Le Kremlin Bicetre</wicri:noRegion><wicri:noRegion>Le Kremlin Bicetre</wicri:noRegion></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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Hieu, Thierry" sort="Hieu, Thierry" uniqKey="Hieu T" first="Thierry" last="Hieu">Thierry Hieu</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cecile" last="Masson">Cecile Masson</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation wicri:level="3"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Évry (Essonne)</settlement></placeName></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><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion></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><wicri:noRegion>75005</wicri:noRegion><wicri:noRegion>75005</wicri:noRegion></affiliation><affiliation wicri:level="4"><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><wicri:noRegion>75005</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></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><wicri:noRegion>Children’s Hospital A. Meyer-University of Florence</wicri:noRegion></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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="4"><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><wicri:noRegion>Université Paris Descartes</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="university">Université Paris-Descartes</orgName><orgName type="institution" wicri:auto="newGroup">Sorbonne Paris Cité</orgName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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><idno type="wicri:Area/Pmc/Checkpoint">002131</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002131</idno><idno type="wicri:Area/Ncbi/Merge">005843</idno><idno type="wicri:Area/Ncbi/Curation">005843</idno><idno type="wicri:Area/Ncbi/Checkpoint">005843</idno><idno type="wicri:doubleKey">1061-4036:2013:Poirier K:mutations:in:tubg</idno><idno type="wicri:Area/Main/Merge">003377</idno><idno type="wicri:Area/Main/Curation">003371</idno><idno type="wicri:Area/Main/Exploration">003371</idno><idno type="wicri:Area/France/Extraction">000156</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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lebrun, Nicolas" sort="Lebrun, Nicolas" uniqKey="Lebrun N" first="Nicolas" last="Lebrun">Nicolas Lebrun</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Broix, Loic" sort="Broix, Loic" uniqKey="Broix L" first="Loic" last="Broix">Loic Broix</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion></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><wicri:noRegion>Children’s Hospital A. Meyer-University of Florence</wicri:noRegion></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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Saintpierre, Benjamin" sort="Saintpierre, Benjamin" uniqKey="Saintpierre B" first="Benjamin" last="Saintpierre">Benjamin Saintpierre</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Oger, Madison" sort="Oger, Madison" uniqKey="Oger M" first="Madison" last="Oger">Madison Oger</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="3"><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><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation wicri:level="4"><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><wicri:noRegion>34000 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName></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><wicri:noRegion>Azienda Ospedaliera Univesritaria di Verona</wicri:noRegion></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><wicri:noRegion>Azienda Ospedaliera Univesritaria di Verona</wicri:noRegion></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><wicri:noRegion>CHU Toulouse</wicri:noRegion><wicri:noRegion>CHU Toulouse</wicri:noRegion></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><wicri:noRegion>49033 Angers Cedex</wicri:noRegion><wicri:noRegion>49033 Angers Cedex</wicri:noRegion></affiliation><affiliation wicri:level="3"><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><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></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><wicri:noRegion>49033 Angers Cedex</wicri:noRegion><wicri:noRegion>49033 Angers Cedex</wicri:noRegion></affiliation><affiliation wicri:level="3"><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><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></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><wicri:noRegion>Azienda Ospedaliera Univesritaria di Verona</wicri:noRegion></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="3"><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><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="4"><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><wicri:noRegion>Université Paris Descartes</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="university">Université Paris-Descartes</orgName><orgName type="institution" wicri:auto="newGroup">Sorbonne Paris Cité</orgName></affiliation></author><author><name sortKey="Parent, Philippe" sort="Parent, Philippe" uniqKey="Parent P" first="Philippe" last="Parent">Philippe Parent</name><affiliation wicri:level="3"><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><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Brest</settlement></placeName></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><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></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="3"><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><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></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><wicri:noRegion>Le Kremlin Bicetre</wicri:noRegion><wicri:noRegion>Le Kremlin Bicetre</wicri:noRegion></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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Hieu, Thierry" sort="Hieu, Thierry" uniqKey="Hieu T" first="Thierry" last="Hieu">Thierry Hieu</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cecile" last="Masson">Cecile Masson</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation wicri:level="3"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Évry (Essonne)</settlement></placeName></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><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion><wicri:noRegion>Université Joseph Fourier – Grenoble 1</wicri:noRegion></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><wicri:noRegion>75005</wicri:noRegion><wicri:noRegion>75005</wicri:noRegion></affiliation><affiliation wicri:level="4"><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><wicri:noRegion>75005</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></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><wicri:noRegion>Children’s Hospital A. Meyer-University of Florence</wicri:noRegion></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="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="4"><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><wicri:noRegion>Université Paris Descartes</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="university">Université Paris-Descartes</orgName><orgName type="institution" wicri:auto="newGroup">Sorbonne Paris Cité</orgName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="4"><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><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">Inserm, U1016, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, U1016, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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><affiliations><list><country><li>France</li><li>Italie</li><li>États-Unis</li></country><region><li>Aquitaine</li><li>Languedoc-Roussillon</li><li>Nouvelle-Aquitaine</li><li>Occitanie (région administrative)</li><li>Pays de la Loire</li><li>Région Bretagne</li><li>État de New York</li><li>Île-de-France</li></region><settlement><li>Angers</li><li>Bordeaux</li><li>Brest</li><li>Montpellier</li><li>Nantes</li><li>Paris</li><li>Évry (Essonne)</li></settlement><orgName><li>Sorbonne Paris Cité</li><li>Université Montpellier 1</li><li>Université Paris-Descartes</li><li>Université Pierre-et-Marie-Curie</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name></region><name sortKey="Andrieux, Annie" sort="Andrieux, Annie" uniqKey="Andrieux A" first="Annie" last="Andrieux">Annie Andrieux</name><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><name sortKey="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><name sortKey="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><name sortKey="Boscheron, Cecile" sort="Boscheron, Cecile" uniqKey="Boscheron C" first="Cécile" last="Boscheron">Cécile Boscheron</name><name sortKey="Broix, Loic" sort="Broix, Loic" uniqKey="Broix L" first="Loic" last="Broix">Loic Broix</name><name sortKey="Broix, Loic" sort="Broix, Loic" uniqKey="Broix L" first="Loic" last="Broix">Loic Broix</name><name sortKey="Cances, Claude" sort="Cances, Claude" uniqKey="Cances C" first="Claude" last="Cances">Claude Cances</name><name sortKey="Castelnau Ptakine, Laetitia" sort="Castelnau Ptakine, Laetitia" uniqKey="Castelnau Ptakine L" first="Laetitia" last="Castelnau-Ptakine">Laetitia Castelnau-Ptakine</name><name sortKey="Castelnau Ptakine, Laetitia" sort="Castelnau Ptakine, Laetitia" uniqKey="Castelnau Ptakine L" first="Laetitia" last="Castelnau-Ptakine">Laetitia Castelnau-Ptakine</name><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name><name sortKey="Francis, Fiona" sort="Francis, Fiona" uniqKey="Francis F" first="Fiona" last="Francis">Fiona Francis</name><name sortKey="Francis, Fiona" sort="Francis, Fiona" uniqKey="Francis F" first="Fiona" last="Francis">Fiona Francis</name><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name><name sortKey="Hieu, Thierry" sort="Hieu, Thierry" uniqKey="Hieu T" first="Thierry" last="Hieu">Thierry Hieu</name><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><name sortKey="Lebrun, Nicolas" sort="Lebrun, Nicolas" uniqKey="Lebrun N" first="Nicolas" last="Lebrun">Nicolas Lebrun</name><name sortKey="Lebrun, Nicolas" sort="Lebrun, Nicolas" uniqKey="Lebrun N" first="Nicolas" last="Lebrun">Nicolas Lebrun</name><name sortKey="Legrez, Victoire" sort="Legrez, Victoire" uniqKey="Legrez V" first="Victoire" last="Legrez">Victoire Legrez</name><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cecile" last="Masson">Cecile Masson</name><name sortKey="N Uyen, Sylvie" sort="N Uyen, Sylvie" uniqKey="N Uyen S" first="Sylvie" last="N Uyen">Sylvie N Uyen</name><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><name sortKey="Oger, Madison" sort="Oger, Madison" uniqKey="Oger M" first="Madison" last="Oger">Madison Oger</name><name sortKey="Oger, Madison" sort="Oger, Madison" uniqKey="Oger M" first="Madison" last="Oger">Madison Oger</name><name sortKey="Parent, Philippe" sort="Parent, Philippe" uniqKey="Parent P" first="Philippe" last="Parent">Philippe Parent</name><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean Michel" last="Pedespan">Jean Michel Pedespan</name><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name><name sortKey="Saillour, Yoann" sort="Saillour, Yoann" uniqKey="Saillour Y" first="Yoann" last="Saillour">Yoann Saillour</name><name sortKey="Saillour, Yoann" sort="Saillour, Yoann" uniqKey="Saillour Y" first="Yoann" last="Saillour">Yoann Saillour</name><name sortKey="Saintpierre, Benjamin" sort="Saintpierre, Benjamin" uniqKey="Saintpierre B" first="Benjamin" last="Saintpierre">Benjamin Saintpierre</name><name sortKey="Saintpierre, Benjamin" sort="Saintpierre, Benjamin" uniqKey="Saintpierre B" first="Benjamin" last="Saintpierre">Benjamin Saintpierre</name><name sortKey="Valence, Stephanie" sort="Valence, Stephanie" uniqKey="Valence S" first="Stephanie" last="Valence">Stephanie Valence</name><name sortKey="Valence, Stephanie" sort="Valence, Stephanie" uniqKey="Valence S" first="Stephanie" last="Valence">Stephanie Valence</name><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Tian, Guoling" sort="Tian, Guoling" uniqKey="Tian G" first="Guoling" last="Tian">Guoling Tian</name></region><name sortKey="Cowan, Nicholas J" sort="Cowan, Nicholas J" uniqKey="Cowan N" first="Nicholas J." last="Cowan">Nicholas J. Cowan</name></country><country name="Italie"><noRegion><name sortKey="Parrini, Elena" sort="Parrini, Elena" uniqKey="Parrini E" first="Elena" last="Parrini">Elena Parrini</name></noRegion><name sortKey="Bernadina, Bernardo Dalla" sort="Bernadina, Bernardo Dalla" uniqKey="Bernadina B" first="Bernardo Dalla" last="Bernadina">Bernardo Dalla Bernadina</name><name sortKey="Darra, Franscesca" sort="Darra, Franscesca" uniqKey="Darra F" first="Franscesca" last="Darra">Franscesca Darra</name><name sortKey="Fontana, Elena" sort="Fontana, Elena" uniqKey="Fontana E" first="Elena" last="Fontana">Elena Fontana</name><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><name sortKey="Parrini, Elena" sort="Parrini, Elena" uniqKey="Parrini E" first="Elena" last="Parrini">Elena Parrini</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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