Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study
Identifieur interne : 003055 ( Main/Exploration ); précédent : 003054; suivant : 003056Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study
Auteurs : Ghayda Mirzaa [États-Unis] ; Valerio Conti [Italie] ; Andrew E. Timms [États-Unis] ; Christopher D. Smyser [États-Unis] ; Sarah Ahmed [États-Unis] ; Melissa Carter [Canada] ; Sarah Barnett [États-Unis] ; Robert B. Hufnagel [États-Unis] ; Amy Goldstein [États-Unis] ; Yoko Narumi-Kishimoto [Japon] ; Carissa Olds [États-Unis] ; Sarah Collins [États-Unis] ; Kathreen Johnston [États-Unis] ; Jean-François Deleuze [France] ; Patrick Nitschké [France] ; Kathryn Friend [Australie] ; Catharine Harris [États-Unis] ; Allison Goetsch [États-Unis] ; Beth Martin [États-Unis] ; Evan August Boyle [États-Unis] ; Elena Parrini [Italie] ; Davide Mei [Italie] ; Lorenzo Tattini [Italie] ; Anne Slavotinek [États-Unis] ; Ed Blair [Royaume-Uni] ; Christopher Barnett [Australie] ; Jay Shendure [États-Unis] ; Jamel Chelly [France] ; William B. Dobyns [États-Unis] ; Renzo Guerrini [Italie]Source :
- The Lancet. Neurology [ 1474-4422 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Phosphatidylinositol 3-Kinases.
- genetics : Abnormalities, Multiple, Intellectual Disability, Malformations of Cortical Development.
- Adolescent, Child, Child, Preschool, DNA Mutational Analysis, Humans, Infant, Mutation, Young Adult.
Abstract
Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment and epilepsy. BPP is etiologically heterogeneous, but only a few genetic causes have been reported. The aim of this study was to identify additional genetic etiologies of BPP and delineate their frequency in this patient population.
We performed child-parent (trio)-based whole exome sequencing (WES)
on eight children with BPP. Following the identification of mosaic
Using WES, we identified a mosaic mutation (p.Gly373Arg) in the
regulatory subunit of the PI3K-AKT-MTOR pathway,
Constitutional and mosaic mutations in the
Url:
DOI: 10.1016/S1474-4422(15)00278-1
PubMed: 26520804
PubMed Central: 4672724
Affiliations:
- Australie, Canada, France, Italie, Japon, Royaume-Uni, États-Unis
- Alsace (région administrative), Californie, Grand Est, Illinois, Missouri (État), Ohio, Pennsylvanie, Région de Kantō, Toscane, Washington (État), Île-de-France
- Paris, Pise, Saint-Louis (Missouri), Seattle, Strasbourg, Tokyo, Évry (Essonne)
- Université de Washington, École de médecine (Université Washington de Saint-Louis)
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Le document en format XML
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regulatory subunit, <italic>PIK3R2</italic>
, in perisylvian polymicrogyria: a
next generation sequencing study</title>
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<author><name sortKey="Barnett, Sarah" sort="Barnett, Sarah" uniqKey="Barnett S" first="Sarah" last="Barnett">Sarah Barnett</name>
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<author><name sortKey="Hufnagel, Robert B" sort="Hufnagel, Robert B" uniqKey="Hufnagel R" first="Robert B." last="Hufnagel">Robert B. Hufnagel</name>
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<author><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name>
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<author><name sortKey="Narumi Kishimoto, Yoko" sort="Narumi Kishimoto, Yoko" uniqKey="Narumi Kishimoto Y" first="Yoko" last="Narumi-Kishimoto">Yoko Narumi-Kishimoto</name>
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<author><name sortKey="Olds, Carissa" sort="Olds, Carissa" uniqKey="Olds C" first="Carissa" last="Olds">Carissa Olds</name>
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<author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
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<author><name sortKey="Johnston, Kathreen" sort="Johnston, Kathreen" uniqKey="Johnston K" first="Kathreen" last="Johnston">Kathreen Johnston</name>
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<author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
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<author><name sortKey="Friend, Kathryn" sort="Friend, Kathryn" uniqKey="Friend K" first="Kathryn" last="Friend">Kathryn Friend</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois</wicri:regionArea>
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<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
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</placeName>
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<author><name sortKey="Boyle, Evan August" sort="Boyle, Evan August" uniqKey="Boyle E" first="Evan August" last="Boyle">Evan August Boyle</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University School of Medicine, Stanford, California</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Parrini, Elena" sort="Parrini, Elena" uniqKey="Parrini E" first="Elena" last="Parrini">Elena Parrini</name>
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<country xml:lang="fr">Italie</country>
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<author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name>
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<country xml:lang="fr">Italie</country>
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<author><name sortKey="Tattini, Lorenzo" sort="Tattini, Lorenzo" uniqKey="Tattini L" first="Lorenzo" last="Tattini">Lorenzo Tattini</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Slavotinek, Anne" sort="Slavotinek, Anne" uniqKey="Slavotinek A" first="Anne" last="Slavotinek">Anne Slavotinek</name>
<affiliation wicri:level="2"><nlm:aff id="A18">Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
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<author><name sortKey="Blair, Ed" sort="Blair, Ed" uniqKey="Blair E" first="Ed" last="Blair">Ed Blair</name>
<affiliation wicri:level="1"><nlm:aff id="A19">Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington</wicri:regionArea>
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<author><name sortKey="Barnett, Christopher" sort="Barnett, Christopher" uniqKey="Barnett C" first="Christopher" last="Barnett">Christopher Barnett</name>
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<author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
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<settlement type="city">Seattle</settlement>
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<orgName type="university">Université de Washington</orgName>
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<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="3"><nlm:aff id="A21">Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
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<placeName><region type="region">Grand Est</region>
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<settlement type="city">Strasbourg</settlement>
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<affiliation wicri:level="1"><nlm:aff id="A22">IGBMC, Translational Medicine and Neurogenetics Department. Illkirch, France</nlm:aff>
<country xml:lang="fr">France</country>
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<wicri:noRegion>Translational Medicine and Neurogenetics Department. Illkirch</wicri:noRegion>
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<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
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<country xml:lang="fr">États-Unis</country>
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<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
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<affiliation wicri:level="2"><nlm:aff id="A2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
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<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="A3">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A23">IRCCS Stella Maris Foundation, Pisa, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Stella Maris Foundation, Pisa</wicri:regionArea>
<placeName><settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Characterization of mutations of the phosphoinositide-3-kinase
regulatory subunit, <italic>PIK3R2</italic>
, in perisylvian polymicrogyria: a
next generation sequencing study</title>
<author><name sortKey="Mirzaa, Ghayda" sort="Mirzaa, Ghayda" uniqKey="Mirzaa G" first="Ghayda" last="Mirzaa">Ghayda Mirzaa</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Conti, Valerio" sort="Conti, Valerio" uniqKey="Conti V" first="Valerio" last="Conti">Valerio Conti</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E." last="Timms">Andrew E. Timms</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Center for Developmental Biology and Regenerative, Medicine, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Developmental Biology and Regenerative, Medicine, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Smyser, Christopher D" sort="Smyser, Christopher D" uniqKey="Smyser C" first="Christopher D." last="Smyser">Christopher D. Smyser</name>
<affiliation wicri:level="4"><nlm:aff id="A5">Departments of Neurology and Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Neurology and Pediatrics, Washington University School of Medicine, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Ahmed, Sarah" sort="Ahmed, Sarah" uniqKey="Ahmed S" first="Sarah" last="Ahmed">Sarah Ahmed</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Carter, Melissa" sort="Carter, Melissa" uniqKey="Carter M" first="Melissa" last="Carter">Melissa Carter</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto</wicri:regionArea>
<wicri:noRegion>Toronto</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barnett, Sarah" sort="Barnett, Sarah" uniqKey="Barnett S" first="Sarah" last="Barnett">Sarah Barnett</name>
<affiliation wicri:level="2"><nlm:aff id="A7">Division of Medical Genetics, University of Missouri, Missouri, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, University of Missouri, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hufnagel, Robert B" sort="Hufnagel, Robert B" uniqKey="Hufnagel R" first="Robert B." last="Hufnagel">Robert B. Hufnagel</name>
<affiliation wicri:level="2"><nlm:aff id="A8">Division of Human Genetics, Cincinnati Children’s Hospital, Cincinnati, Ohio, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, Cincinnati Children’s Hospital, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name>
<affiliation wicri:level="2"><nlm:aff id="A9">Division of Child Neurology, Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Child Neurology, Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Narumi Kishimoto, Yoko" sort="Narumi Kishimoto, Yoko" uniqKey="Narumi Kishimoto Y" first="Yoko" last="Narumi-Kishimoto">Yoko Narumi-Kishimoto</name>
<affiliation wicri:level="3"><nlm:aff id="A10">Department of Pediatrics, Shimada Ryoiku Center Hachiouji, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Shimada Ryoiku Center Hachiouji, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Olds, Carissa" sort="Olds, Carissa" uniqKey="Olds C" first="Carissa" last="Olds">Carissa Olds</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Johnston, Kathreen" sort="Johnston, Kathreen" uniqKey="Johnston K" first="Kathreen" last="Johnston">Kathreen Johnston</name>
<affiliation wicri:level="2"><nlm:aff id="A11">Genetics Department, The Permanente Medical Group, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genetics Department, The Permanente Medical Group, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
<affiliation wicri:level="3"><nlm:aff id="A12">Centre National de Génotypage, Evry, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre National de Génotypage, 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="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name>
<affiliation wicri:level="3"><nlm:aff id="A13">Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, 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="Friend, Kathryn" sort="Friend, Kathryn" uniqKey="Friend K" first="Kathryn" last="Friend">Kathryn Friend</name>
<affiliation wicri:level="1"><nlm:aff id="A14">Genetics and Molecular Pathology, Women’s and Children’s Hospital, North Adelaide, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics and Molecular Pathology, Women’s and Children’s Hospital, North Adelaide</wicri:regionArea>
<wicri:noRegion>North Adelaide</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Harris, Catharine" sort="Harris, Catharine" uniqKey="Harris C" first="Catharine" last="Harris">Catharine Harris</name>
<affiliation wicri:level="2"><nlm:aff id="A7">Division of Medical Genetics, University of Missouri, Missouri, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, University of Missouri, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goetsch, Allison" sort="Goetsch, Allison" uniqKey="Goetsch A" first="Allison" last="Goetsch">Allison Goetsch</name>
<affiliation wicri:level="2"><nlm:aff id="A15">Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Martin, Beth" sort="Martin, Beth" uniqKey="Martin B" first="Beth" last="Martin">Beth Martin</name>
<affiliation wicri:level="4"><nlm:aff id="A16">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Boyle, Evan August" sort="Boyle, Evan August" uniqKey="Boyle E" first="Evan August" last="Boyle">Evan August Boyle</name>
<affiliation wicri:level="2"><nlm:aff id="A17">Department of Genetics, Stanford University School of Medicine, Stanford, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University School of Medicine, Stanford, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</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="A3">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tattini, Lorenzo" sort="Tattini, Lorenzo" uniqKey="Tattini L" first="Lorenzo" last="Tattini">Lorenzo Tattini</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Slavotinek, Anne" sort="Slavotinek, Anne" uniqKey="Slavotinek A" first="Anne" last="Slavotinek">Anne Slavotinek</name>
<affiliation wicri:level="2"><nlm:aff id="A18">Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Blair, Ed" sort="Blair, Ed" uniqKey="Blair E" first="Ed" last="Blair">Ed Blair</name>
<affiliation wicri:level="1"><nlm:aff id="A19">Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington</wicri:regionArea>
<wicri:noRegion>Headington</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barnett, Christopher" sort="Barnett, Christopher" uniqKey="Barnett C" first="Christopher" last="Barnett">Christopher Barnett</name>
<affiliation wicri:level="1"><nlm:aff id="A20">South Australian Clinical Genetics Service, Women’s and Children’s Hospital/SA Pathology, North Adelaide, Australia, Discipline of Pediatrics, University of Adelaide, Adelaide, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>South Australian Clinical Genetics Service, Women’s and Children’s Hospital/SA Pathology, North Adelaide, Australia, Discipline of Pediatrics, University of Adelaide, Adelaide</wicri:regionArea>
<wicri:noRegion>Adelaide</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
<affiliation wicri:level="4"><nlm:aff id="A16">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="3"><nlm:aff id="A21">Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Alsace (région administrative)</region>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A22">IGBMC, Translational Medicine and Neurogenetics Department. Illkirch, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>IGBMC, Translational Medicine and Neurogenetics Department. Illkirch</wicri:regionArea>
<wicri:noRegion>Translational Medicine and Neurogenetics Department. Illkirch</wicri:noRegion>
<wicri:noRegion>Translational Medicine and Neurogenetics Department. Illkirch</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</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="A3">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A23">IRCCS Stella Maris Foundation, Pisa, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Stella Maris Foundation, Pisa</wicri:regionArea>
<placeName><settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">The Lancet. Neurology</title>
<idno type="ISSN">1474-4422</idno>
<idno type="eISSN">1474-4465</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term>
<term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Infant</term>
<term>Intellectual Disability (genetics)</term>
<term>Malformations of Cortical Development (genetics)</term>
<term>Mutation</term>
<term>Phosphatidylinositol 3-Kinases (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Analyse de mutations d'ADN</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Malformations corticales (génétique)</term>
<term>Malformations multiples (génétique)</term>
<term>Mutation</term>
<term>Nourrisson</term>
<term>Phosphatidylinositol 3-kinases (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphatidylinositol 3-Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Intellectual Disability</term>
<term>Malformations of Cortical Development</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Malformations corticales</term>
<term>Malformations multiples</term>
<term>Phosphatidylinositol 3-kinases</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Infant</term>
<term>Mutation</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Analyse de mutations d'ADN</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mutation</term>
<term>Nourrisson</term>
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<front><div type="abstract" xml:lang="en"><title>SUMMARY</title>
<sec id="S1"><title>Background</title>
<p id="P3">Bilateral perisylvian polymicrogyria (BPP), the most common form of
regional polymicrogyria, causes the congenital bilateral perisylvian
syndrome, featuring oromotor dysfunction, cognitive impairment and epilepsy.
BPP is etiologically heterogeneous, but only a few genetic causes have been
reported. The aim of this study was to identify additional genetic
etiologies of BPP and delineate their frequency in this patient
population.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P4">We performed child-parent (trio)-based whole exome sequencing (WES)
on eight children with BPP. Following the identification of mosaic
<italic>PIK3R2</italic>
mutations in two of these eight children, we
performed targeted screening of <italic>PIK3R2</italic>
in a cohort of 118
children with BPP who were ascertained from 1980 until 2015 using two
methods. First, we performed targeted sequencing of the entire
<italic>PIK3R2</italic>
gene by single molecule molecular inversion
probes (smMIPs) on 38 patients with BPP with normal-large head size. Second,
we performed amplicon sequencing of the recurrent <italic>PIK3R2</italic>
mutation (p.Gly373Arg) on 80 children with various types of polymicrogyria
including BPP. One additional patient underwent clinical WES independently,
and was included in this study given the phenotypic similarity to our
cohort. All patients included in this study were children (< 18 years of
age) with polymicrogyria enrolled in our research program.</p>
</sec>
<sec id="S3"><title>Findings</title>
<p id="P5">Using WES, we identified a mosaic mutation (p.Gly373Arg) in the
regulatory subunit of the PI3K-AKT-MTOR pathway, <italic>PIK3R2</italic>
, in
two children with BPP. Of the 38 patients with BPP and normal-large head
size who underwent targeted next generation sequencing by smMIPs, we
identified constitutional and mosaic <italic>PIK3R2</italic>
mutations in 17
additional children. In parallel, one patient was found to have the
recurrent <italic>PIK3R2</italic>
mutation by clinical WES. Seven patients
had BPP alone, and 13 had BPP in association with features of the
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH).
Nineteen patients had the same mutation (Gly373Arg), and one had a nearby
missense mutation (p.Lys376Glu). Across the entire cohort, mutations were
constitutional in 12 and mosaic in eight patients. Among mosaic patients, we
observed substantial variation in alternate (mutant) allele levels ranging
from 2·5% (10/377) to 36·7% (39/106) of
reads, equivalent to 5–73·4% of cells analyzed.
Levels of mosaicism varied from undetectable to 17·1%
(37/216) of reads in blood-derived compared to 29·4%
(2030/6889) to 43·3% (275/634) in saliva-derived DNA.</p>
</sec>
<sec id="S4"><title>Interpretation</title>
<p id="P6">Constitutional and mosaic mutations in the <italic>PIK3R2</italic>
gene are associated with a spectrum of developmental brain disorders ranging
from BPP with a normal head size to the
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. The
phenotypic variability and low-level mosaicism challenging conventional
molecular methods have important implications for genetic testing and
counseling.</p>
</sec>
</div>
</front>
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<author><name sortKey="Poduri, A" uniqKey="Poduri A">A Poduri</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ronan, L" uniqKey="Ronan L">L Ronan</name>
</author>
<author><name sortKey="Fletcher, Pc" uniqKey="Fletcher P">PC Fletcher</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="O Ahilly, R" uniqKey="O Ahilly R">R O’Rahilly</name>
</author>
<author><name sortKey="Muller, F" uniqKey="Muller F">F Müller</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Budday, S" uniqKey="Budday S">S Budday</name>
</author>
<author><name sortKey="Raybaud, C" uniqKey="Raybaud C">C Raybaud</name>
</author>
<author><name sortKey="Kuhl, E" uniqKey="Kuhl E">E Kuhl</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Campbell, Im" uniqKey="Campbell I">IM Campbell</name>
</author>
<author><name sortKey="Stewart, Jr" uniqKey="Stewart J">JR Stewart</name>
</author>
<author><name sortKey="James, Ra" uniqKey="James R">RA James</name>
</author>
<author><name sortKey="Lupski, Jr" uniqKey="Lupski J">JR Lupski</name>
</author>
<author><name sortKey="Stankiewicz, P" uniqKey="Stankiewicz P">P Stankiewicz</name>
</author>
<author><name sortKey="Olofsson, P" uniqKey="Olofsson P">P Olofsson</name>
</author>
<author><name sortKey="Shaw, Ca" uniqKey="Shaw C">CA Shaw</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Campbell, Im" uniqKey="Campbell I">IM Campbell</name>
</author>
<author><name sortKey="Yuan, B" uniqKey="Yuan B">B Yuan</name>
</author>
<author><name sortKey="Robberecht, C" uniqKey="Robberecht C">C Robberecht</name>
</author>
<author><name sortKey="Pfundt, R" uniqKey="Pfundt R">R Pfundt</name>
</author>
<author><name sortKey="Szafranski, P" uniqKey="Szafranski P">P Szafranski</name>
</author>
<author><name sortKey="Mcentagart, Me" uniqKey="Mcentagart M">ME McEntagart</name>
</author>
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</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>Italie</li>
<li>Japon</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Alsace (région administrative)</li>
<li>Californie</li>
<li>Grand Est</li>
<li>Illinois</li>
<li>Missouri (État)</li>
<li>Ohio</li>
<li>Pennsylvanie</li>
<li>Région de Kantō</li>
<li>Toscane</li>
<li>Washington (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
<li>Pise</li>
<li>Saint-Louis (Missouri)</li>
<li>Seattle</li>
<li>Strasbourg</li>
<li>Tokyo</li>
<li>Évry (Essonne)</li>
</settlement>
<orgName><li>Université de Washington</li>
<li>École de médecine (Université Washington de Saint-Louis)</li>
</orgName>
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<tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Mirzaa, Ghayda" sort="Mirzaa, Ghayda" uniqKey="Mirzaa G" first="Ghayda" last="Mirzaa">Ghayda Mirzaa</name>
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<name sortKey="Barnett, Sarah" sort="Barnett, Sarah" uniqKey="Barnett S" first="Sarah" last="Barnett">Sarah Barnett</name>
<name sortKey="Boyle, Evan August" sort="Boyle, Evan August" uniqKey="Boyle E" first="Evan August" last="Boyle">Evan August Boyle</name>
<name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
<name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<name sortKey="Goetsch, Allison" sort="Goetsch, Allison" uniqKey="Goetsch A" first="Allison" last="Goetsch">Allison Goetsch</name>
<name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name>
<name sortKey="Harris, Catharine" sort="Harris, Catharine" uniqKey="Harris C" first="Catharine" last="Harris">Catharine Harris</name>
<name sortKey="Hufnagel, Robert B" sort="Hufnagel, Robert B" uniqKey="Hufnagel R" first="Robert B." last="Hufnagel">Robert B. Hufnagel</name>
<name sortKey="Johnston, Kathreen" sort="Johnston, Kathreen" uniqKey="Johnston K" first="Kathreen" last="Johnston">Kathreen Johnston</name>
<name sortKey="Martin, Beth" sort="Martin, Beth" uniqKey="Martin B" first="Beth" last="Martin">Beth Martin</name>
<name sortKey="Mirzaa, Ghayda" sort="Mirzaa, Ghayda" uniqKey="Mirzaa G" first="Ghayda" last="Mirzaa">Ghayda Mirzaa</name>
<name sortKey="Olds, Carissa" sort="Olds, Carissa" uniqKey="Olds C" first="Carissa" last="Olds">Carissa Olds</name>
<name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
<name sortKey="Slavotinek, Anne" sort="Slavotinek, Anne" uniqKey="Slavotinek A" first="Anne" last="Slavotinek">Anne Slavotinek</name>
<name sortKey="Smyser, Christopher D" sort="Smyser, Christopher D" uniqKey="Smyser C" first="Christopher D." last="Smyser">Christopher D. Smyser</name>
<name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E." last="Timms">Andrew E. Timms</name>
</country>
<country name="Italie"><noRegion><name sortKey="Conti, Valerio" sort="Conti, Valerio" uniqKey="Conti V" first="Valerio" last="Conti">Valerio Conti</name>
</noRegion>
<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="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name>
<name sortKey="Parrini, Elena" sort="Parrini, Elena" uniqKey="Parrini E" first="Elena" last="Parrini">Elena Parrini</name>
<name sortKey="Tattini, Lorenzo" sort="Tattini, Lorenzo" uniqKey="Tattini L" first="Lorenzo" last="Tattini">Lorenzo Tattini</name>
</country>
<country name="Canada"><noRegion><name sortKey="Carter, Melissa" sort="Carter, Melissa" uniqKey="Carter M" first="Melissa" last="Carter">Melissa Carter</name>
</noRegion>
</country>
<country name="Japon"><region name="Région de Kantō"><name sortKey="Narumi Kishimoto, Yoko" sort="Narumi Kishimoto, Yoko" uniqKey="Narumi Kishimoto Y" first="Yoko" last="Narumi-Kishimoto">Yoko Narumi-Kishimoto</name>
</region>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
</region>
<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="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name>
</country>
<country name="Australie"><noRegion><name sortKey="Friend, Kathryn" sort="Friend, Kathryn" uniqKey="Friend K" first="Kathryn" last="Friend">Kathryn Friend</name>
</noRegion>
<name sortKey="Barnett, Christopher" sort="Barnett, Christopher" uniqKey="Barnett C" first="Christopher" last="Barnett">Christopher Barnett</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Blair, Ed" sort="Blair, Ed" uniqKey="Blair E" first="Ed" last="Blair">Ed Blair</name>
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</record>
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