The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
Identifieur interne : 000827 ( Main/Exploration ); précédent : 000826; suivant : 000828The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
Auteurs : Aurore Curie [France, États-Unis] ; Tatjana Nazir [France] ; Amandine Brun [France] ; Yves Paulignan [France] ; Anne Reboul [France] ; Karine Delange [France] ; Anne Cheylus [France] ; Sophie Bertrand [France] ; Fanny Rochefort [France] ; Gérald Bussy [France] ; Stéphanie Marignier [France] ; Didier Lacombe [France] ; Catherine Chiron [France] ; Mireille Cossée [France] ; Bruno Leheup [France] ; Christophe Philippe [France] ; Vincent Laugel [France] ; Anne De Saint Martin [France] ; Silvia Sacco [France] ; Karine Poirier [France] ; Thierry Bienvenu [France] ; Isabelle Souville [France] ; Brigitte Gilbert-Dussardier [France] ; Eric Bieth [France] ; Didier Kauffmann [France] ; Philippe Briot [France] ; Bénédicte De Fréminville [France] ; Fabienne Prieur [France] ; Michel Till [France] ; Caroline Rooryck-Thambo [France] ; Isabelle Mortemousque [France] ; Isabelle Bobillier-Chaumont [France] ; Annick Toutain [France] ; Renaud Touraine [France] ; Damien Sanlaville [France] ; Jamel Chelly [France] ; Sonya Freeman [États-Unis] ; Jian Kong [États-Unis] ; Nouchine Hadjikhani [États-Unis] ; Randy L. Gollub [États-Unis] ; Alice Roy [France] ; Vincent Des Portes [France]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2014.
Abstract
The c.429_452dup24 of the
We clinically reviewed all affected patients identified in France over a five-year period, i.e. 27 patients from 12 different families. Detailed cognitive, behavioural, and motor evaluation, as well as standardized videotaped assessments of oro-lingual and gestural praxis, were performed. In a sub-group of 13
Neuropsychological and motor assessment indicated that the c.429_452dup24 mutation constitutes a recognizable clinical syndrome:
These findings suggest that the
Url:
DOI: 10.1186/1750-1172-9-25
PubMed: 24528893
PubMed Central: 4016261
Affiliations:
- France, États-Unis
- Alsace (région administrative), Aquitaine, Auvergne-Rhône-Alpes, Centre-Val de Loire, Grand Est, Lorraine (région), Massachusetts, Midi-Pyrénées, Nouvelle-Aquitaine, Occitanie (région administrative), Poitou-Charentes, Rhône-Alpes, Région Centre, Île-de-France
- Bordeaux, Bron, Lyon, Nancy, Paris, Poitiers, Saint-Étienne, Strasbourg, Toulouse, Tours
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000415
- to stream Pmc, to step Curation: 000412
- to stream Pmc, to step Checkpoint: 000282
- to stream Ncbi, to step Merge: 001330
- to stream Ncbi, to step Curation: 001330
- to stream Ncbi, to step Checkpoint: 001330
- to stream Main, to step Merge: 000830
- to stream Main, to step Curation: 000827
Le document en format XML
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<author><name sortKey="Paulignan, Yves" sort="Paulignan, Yves" uniqKey="Paulignan Y" first="Yves" last="Paulignan">Yves Paulignan</name>
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<author><name sortKey="Reboul, Anne" sort="Reboul, Anne" uniqKey="Reboul A" first="Anne" last="Reboul">Anne Reboul</name>
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<author><name sortKey="Rochefort, Fanny" sort="Rochefort, Fanny" uniqKey="Rochefort F" first="Fanny" last="Rochefort">Fanny Rochefort</name>
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<author><name sortKey="Bussy, Gerald" sort="Bussy, Gerald" uniqKey="Bussy G" first="Gérald" last="Bussy">Gérald Bussy</name>
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<author><name sortKey="Marignier, Stephanie" sort="Marignier, Stephanie" uniqKey="Marignier S" first="Stéphanie" last="Marignier">Stéphanie Marignier</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
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<wicri:regionArea>Génétique, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
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<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chiron, Catherine" sort="Chiron, Catherine" uniqKey="Chiron C" first="Catherine" last="Chiron">Catherine Chiron</name>
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<wicri:regionArea>INSERM UMR 663, Hôpital Necker-Enfants malades, 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="Cossee, Mireille" sort="Cossee, Mireille" uniqKey="Cossee M" first="Mireille" last="Cossée">Mireille Cossée</name>
<affiliation wicri:level="3"><nlm:aff id="I7">Génétique moléculaire, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Strasbourg</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Alsace (région administrative)</region>
<settlement type="city">Strasbourg</settlement>
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<author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Nancy</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Lorraine (région)</region>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name>
<affiliation wicri:level="3"><nlm:aff id="I8">Génétique, Nancy, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Nancy</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Lorraine (région)</region>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laugel, Vincent" sort="Laugel, Vincent" uniqKey="Laugel V" first="Vincent" last="Laugel">Vincent Laugel</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Pédiatrie, Strasbourg</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Alsace (région administrative)</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="De Saint Martin, Anne" sort="De Saint Martin, Anne" uniqKey="De Saint Martin A" first="Anne" last="De Saint Martin">Anne De Saint Martin</name>
<affiliation wicri:level="3"><nlm:aff id="I9">Pédiatrie, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pédiatrie, 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>
</author>
<author><name sortKey="Sacco, Silvia" sort="Sacco, Silvia" uniqKey="Sacco S" first="Silvia" last="Sacco">Silvia Sacco</name>
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<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="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name>
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<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
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<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, 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="Souville, Isabelle" sort="Souville, Isabelle" uniqKey="Souville I" first="Isabelle" last="Souville">Isabelle Souville</name>
<affiliation wicri:level="3"><nlm:aff id="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, 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>
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</author>
<author><name sortKey="Gilbert Dussardier, Brigitte" sort="Gilbert Dussardier, Brigitte" uniqKey="Gilbert Dussardier B" first="Brigitte" last="Gilbert-Dussardier">Brigitte Gilbert-Dussardier</name>
<affiliation wicri:level="3"><nlm:aff id="I12">Génétique, Poitiers, France</nlm:aff>
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<wicri:regionArea>Génétique, Poitiers</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
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<author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name>
<affiliation wicri:level="3"><nlm:aff id="I13">Génétique, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
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</author>
<author><name sortKey="Kauffmann, Didier" sort="Kauffmann, Didier" uniqKey="Kauffmann D" first="Didier" last="Kauffmann">Didier Kauffmann</name>
<affiliation wicri:level="1"><nlm:aff id="I14">Fondation Sonnenhof, Bischwiller, France</nlm:aff>
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<wicri:regionArea>Fondation Sonnenhof, Bischwiller</wicri:regionArea>
<wicri:noRegion>Bischwiller</wicri:noRegion>
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<author><name sortKey="Briot, Philippe" sort="Briot, Philippe" uniqKey="Briot P" first="Philippe" last="Briot">Philippe Briot</name>
<affiliation wicri:level="1"><nlm:aff id="I15">MAS de Courcouronnes, Courcouronnes, France</nlm:aff>
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<wicri:regionArea>MAS de Courcouronnes, Courcouronnes</wicri:regionArea>
<wicri:noRegion>Courcouronnes</wicri:noRegion>
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</affiliation>
</author>
<author><name sortKey="De Freminville, Benedicte" sort="De Freminville, Benedicte" uniqKey="De Freminville B" first="Bénédicte" last="De Fréminville">Bénédicte De Fréminville</name>
<affiliation wicri:level="3"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
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<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
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<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
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<settlement type="city">Bron</settlement>
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<wicri:regionArea>Génétique, Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
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<settlement type="city">Saint-Étienne</settlement>
</placeName>
</affiliation>
</author>
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<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
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<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
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<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
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<author><name sortKey="Freeman, Sonya" sort="Freeman, Sonya" uniqKey="Freeman S" first="Sonya" last="Freeman">Sonya Freeman</name>
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<author><name sortKey="Kong, Jian" sort="Kong, Jian" uniqKey="Kong J" first="Jian" last="Kong">Jian Kong</name>
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</affiliation>
</author>
<author><name sortKey="Gollub, Randy L" sort="Gollub, Randy L" uniqKey="Gollub R" first="Randy L" last="Gollub">Randy L. Gollub</name>
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</placeName>
</affiliation>
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<author><name sortKey="Roy, Alice" sort="Roy, Alice" uniqKey="Roy A" first="Alice" last="Roy">Alice Roy</name>
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<country xml:lang="fr">France</country>
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<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
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</placeName>
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<affiliation wicri:level="3"><nlm:aff id="I3">Université de Lyon, Faculté de médecine Lyon Sud - Charles Mérieux, F-69008 Lyon, France</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The c.429_452 duplication of the <italic>ARX</italic>
gene: a unique developmental-model of limb kinetic apraxia</title>
<author><name sortKey="Curie, Aurore" sort="Curie, Aurore" uniqKey="Curie A" first="Aurore" last="Curie">Aurore Curie</name>
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<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
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<affiliation wicri:level="3"><nlm:aff id="I3">Université de Lyon, Faculté de médecine Lyon Sud - Charles Mérieux, F-69008 Lyon, France</nlm:aff>
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<wicri:regionArea>Université de Lyon, Faculté de médecine Lyon Sud - Charles Mérieux, F-69008 Lyon</wicri:regionArea>
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<affiliation wicri:level="2"><nlm:aff id="I4">Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA, USA</nlm:aff>
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<author><name sortKey="Nazir, Tatjana" sort="Nazir, Tatjana" uniqKey="Nazir T" first="Tatjana" last="Nazir">Tatjana Nazir</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Brun, Amandine" sort="Brun, Amandine" uniqKey="Brun A" first="Amandine" last="Brun">Amandine Brun</name>
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<country xml:lang="fr">France</country>
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<settlement type="city">Bron</settlement>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
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<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Paulignan, Yves" sort="Paulignan, Yves" uniqKey="Paulignan Y" first="Yves" last="Paulignan">Yves Paulignan</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Reboul, Anne" sort="Reboul, Anne" uniqKey="Reboul A" first="Anne" last="Reboul">Anne Reboul</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
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<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Delange, Karine" sort="Delange, Karine" uniqKey="Delange K" first="Karine" last="Delange">Karine Delange</name>
<affiliation wicri:level="3"><nlm:aff id="I1">Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
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<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
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<settlement type="city">Bron</settlement>
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<author><name sortKey="Cheylus, Anne" sort="Cheylus, Anne" uniqKey="Cheylus A" first="Anne" last="Cheylus">Anne Cheylus</name>
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<country xml:lang="fr">France</country>
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<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
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<author><name sortKey="Bertrand, Sophie" sort="Bertrand, Sophie" uniqKey="Bertrand S" first="Sophie" last="Bertrand">Sophie Bertrand</name>
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<country xml:lang="fr">France</country>
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</affiliation>
</author>
<author><name sortKey="Rochefort, Fanny" sort="Rochefort, Fanny" uniqKey="Rochefort F" first="Fanny" last="Rochefort">Fanny Rochefort</name>
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<country xml:lang="fr">France</country>
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</affiliation>
</author>
<author><name sortKey="Bussy, Gerald" sort="Bussy, Gerald" uniqKey="Bussy G" first="Gérald" last="Bussy">Gérald Bussy</name>
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<country xml:lang="fr">France</country>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
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</affiliation>
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<author><name sortKey="Marignier, Stephanie" sort="Marignier, Stephanie" uniqKey="Marignier S" first="Stéphanie" last="Marignier">Stéphanie Marignier</name>
<affiliation wicri:level="3"><nlm:aff id="I1">Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</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="I5">Génétique, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, 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="Chiron, Catherine" sort="Chiron, Catherine" uniqKey="Chiron C" first="Catherine" last="Chiron">Catherine Chiron</name>
<affiliation wicri:level="3"><nlm:aff id="I6">INSERM UMR 663, Hôpital Necker-Enfants malades, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 663, Hôpital Necker-Enfants malades, 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="Cossee, Mireille" sort="Cossee, Mireille" uniqKey="Cossee M" first="Mireille" last="Cossée">Mireille Cossée</name>
<affiliation wicri:level="3"><nlm:aff id="I7">Génétique moléculaire, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, 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>
</author>
<author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name>
<affiliation wicri:level="3"><nlm:aff id="I8">Génétique, Nancy, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Nancy</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Lorraine (région)</region>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name>
<affiliation wicri:level="3"><nlm:aff id="I8">Génétique, Nancy, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Nancy</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Lorraine (région)</region>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laugel, Vincent" sort="Laugel, Vincent" uniqKey="Laugel V" first="Vincent" last="Laugel">Vincent Laugel</name>
<affiliation wicri:level="3"><nlm:aff id="I9">Pédiatrie, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pédiatrie, 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>
</author>
<author><name sortKey="De Saint Martin, Anne" sort="De Saint Martin, Anne" uniqKey="De Saint Martin A" first="Anne" last="De Saint Martin">Anne De Saint Martin</name>
<affiliation wicri:level="3"><nlm:aff id="I9">Pédiatrie, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pédiatrie, 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>
</author>
<author><name sortKey="Sacco, Silvia" sort="Sacco, Silvia" uniqKey="Sacco S" first="Silvia" last="Sacco">Silvia Sacco</name>
<affiliation wicri:level="3"><nlm:aff id="I10">Neuropédiatrie, Hôpital Trousseau, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Neuropédiatrie, Hôpital Trousseau, 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="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name>
<affiliation wicri:level="3"><nlm:aff id="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, 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="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name>
<affiliation wicri:level="3"><nlm:aff id="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, 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="Souville, Isabelle" sort="Souville, Isabelle" uniqKey="Souville I" first="Isabelle" last="Souville">Isabelle Souville</name>
<affiliation wicri:level="3"><nlm:aff id="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, 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="Gilbert Dussardier, Brigitte" sort="Gilbert Dussardier, Brigitte" uniqKey="Gilbert Dussardier B" first="Brigitte" last="Gilbert-Dussardier">Brigitte Gilbert-Dussardier</name>
<affiliation wicri:level="3"><nlm:aff id="I12">Génétique, Poitiers, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Poitiers</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Poitou-Charentes</region>
<settlement type="city">Poitiers</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name>
<affiliation wicri:level="3"><nlm:aff id="I13">Génétique, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kauffmann, Didier" sort="Kauffmann, Didier" uniqKey="Kauffmann D" first="Didier" last="Kauffmann">Didier Kauffmann</name>
<affiliation wicri:level="1"><nlm:aff id="I14">Fondation Sonnenhof, Bischwiller, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Fondation Sonnenhof, Bischwiller</wicri:regionArea>
<wicri:noRegion>Bischwiller</wicri:noRegion>
<wicri:noRegion>Bischwiller</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Briot, Philippe" sort="Briot, Philippe" uniqKey="Briot P" first="Philippe" last="Briot">Philippe Briot</name>
<affiliation wicri:level="1"><nlm:aff id="I15">MAS de Courcouronnes, Courcouronnes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>MAS de Courcouronnes, Courcouronnes</wicri:regionArea>
<wicri:noRegion>Courcouronnes</wicri:noRegion>
<wicri:noRegion>Courcouronnes</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Freminville, Benedicte" sort="De Freminville, Benedicte" uniqKey="De Freminville B" first="Bénédicte" last="De Fréminville">Bénédicte De Fréminville</name>
<affiliation wicri:level="3"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Saint-Étienne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="3"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Saint-Étienne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Till, Michel" sort="Till, Michel" uniqKey="Till M" first="Michel" last="Till">Michel Till</name>
<affiliation wicri:level="3"><nlm:aff id="I17">Médecine interne, Hôpital Saint Luc Saint Joseph, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Médecine interne, Hôpital Saint Luc Saint Joseph, Lyon</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rooryck Thambo, Caroline" sort="Rooryck Thambo, Caroline" uniqKey="Rooryck Thambo C" first="Caroline" last="Rooryck-Thambo">Caroline Rooryck-Thambo</name>
<affiliation wicri:level="3"><nlm:aff id="I5">Génétique, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, 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="Mortemousque, Isabelle" sort="Mortemousque, Isabelle" uniqKey="Mortemousque I" first="Isabelle" last="Mortemousque">Isabelle Mortemousque</name>
<affiliation wicri:level="3"><nlm:aff id="I18">Génétique, Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bobillier Chaumont, Isabelle" sort="Bobillier Chaumont, Isabelle" uniqKey="Bobillier Chaumont I" first="Isabelle" last="Bobillier-Chaumont">Isabelle Bobillier-Chaumont</name>
<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="3"><nlm:aff id="I18">Génétique, Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name>
<affiliation wicri:level="3"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Saint-Étienne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<affiliation wicri:level="3"><nlm:aff id="I19">Service de génétique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, CRNL, CNRS UMR5292, INSERM U1028, Université Claude Bernard Lyon I, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de génétique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, CRNL, CNRS UMR5292, INSERM U1028, Université Claude Bernard Lyon I, Lyon</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</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="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, 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="Freeman, Sonya" sort="Freeman, Sonya" uniqKey="Freeman S" first="Sonya" last="Freeman">Sonya Freeman</name>
<affiliation wicri:level="2"><nlm:aff id="I4">Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kong, Jian" sort="Kong, Jian" uniqKey="Kong J" first="Jian" last="Kong">Jian Kong</name>
<affiliation wicri:level="2"><nlm:aff id="I4">Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hadjikhani, Nouchine" sort="Hadjikhani, Nouchine" uniqKey="Hadjikhani N" first="Nouchine" last="Hadjikhani">Nouchine Hadjikhani</name>
<affiliation wicri:level="2"><nlm:aff id="I4">Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gollub, Randy L" sort="Gollub, Randy L" uniqKey="Gollub R" first="Randy L" last="Gollub">Randy L. Gollub</name>
<affiliation wicri:level="2"><nlm:aff id="I4">Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roy, Alice" sort="Roy, Alice" uniqKey="Roy A" first="Alice" last="Roy">Alice Roy</name>
<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</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="3"><nlm:aff id="I1">Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="I2">CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="I3">Université de Lyon, Faculté de médecine Lyon Sud - Charles Mérieux, F-69008 Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université de Lyon, Faculté de médecine Lyon Sud - Charles Mérieux, F-69008 Lyon</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Orphanet Journal of Rare Diseases</title>
<idno type="eISSN">1750-1172</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>The c.429_452dup24 of the <italic>ARX</italic>
gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation has been also often classified as “non-specific Intellectual Disability”. The present work aims at a more precise description of the clinical features linked to the c.429_452dup24 mutation.</p>
</sec>
<sec><title>Methods</title>
<p>We clinically reviewed all affected patients identified in France over a five-year period, i.e. 27 patients from 12 different families. Detailed cognitive, behavioural, and motor evaluation, as well as standardized videotaped assessments of oro-lingual and gestural praxis, were performed. In a sub-group of 13 <italic>ARX</italic>
patients, kinematic and MRI studies were further accomplished to better characterize the motor impairment prevalent in the <italic>ARX</italic>
patients group. To ensure that data were specific to the <italic>ARX</italic>
gene mutation and did not result from low-cognitive functioning per se, a group of 27 age- and IQ-matched Down syndrome patients served as control.</p>
</sec>
<sec><title>Results</title>
<p>Neuropsychological and motor assessment indicated that the c.429_452dup24 mutation constitutes a recognizable clinical syndrome: <italic>ARX</italic>
patients exhibiting Intellectual Disability, without primary motor impairment, but with a very specific upper limb distal motor apraxia associated with a pathognomonic hand-grip. Patients affected with the so-called Partington syndrome, which involves major hand dystonia and orolingual apraxia, exhibit the most severe symptoms of the disorder. The particular “reach and grip” impairment which was observed in all <italic>ARX</italic>
patients, but not in Down syndrome patients, was further characterized by the kinematic data: (i) loss of preference for the index finger when gripping an object, (ii) major impairment of fourth finger deftness, and (iii) a lack of pronation movements. This lack of distal movement coordination exhibited by <italic>ARX</italic>
patients is associated with the loss of independent digital dexterity and is similar to the distortion of individual finger movements and posture observed in Limb Kinetic Apraxia.</p>
</sec>
<sec><title>Conclusion</title>
<p>These findings suggest that the <italic>ARX</italic>
c.429_452dup24 mutation may be a developmental model for Limb Kinetic Apraxia.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Bienvenu, T" uniqKey="Bienvenu T">T Bienvenu</name>
</author>
<author><name sortKey="Poirier, K" uniqKey="Poirier K">K Poirier</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Stromme, P" uniqKey="Stromme P">P Stromme</name>
</author>
<author><name sortKey="Mangelsdorf, Me" uniqKey="Mangelsdorf M">ME Mangelsdorf</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Poirier, K" uniqKey="Poirier K">K Poirier</name>
</author>
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</biblStruct>
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</back>
</TEI>
<affiliations><list><country><li>France</li>
<li>États-Unis</li>
</country>
<region><li>Alsace (région administrative)</li>
<li>Aquitaine</li>
<li>Auvergne-Rhône-Alpes</li>
<li>Centre-Val de Loire</li>
<li>Grand Est</li>
<li>Lorraine (région)</li>
<li>Massachusetts</li>
<li>Midi-Pyrénées</li>
<li>Nouvelle-Aquitaine</li>
<li>Occitanie (région administrative)</li>
<li>Poitou-Charentes</li>
<li>Rhône-Alpes</li>
<li>Région Centre</li>
<li>Île-de-France</li>
</region>
<settlement><li>Bordeaux</li>
<li>Bron</li>
<li>Lyon</li>
<li>Nancy</li>
<li>Paris</li>
<li>Poitiers</li>
<li>Saint-Étienne</li>
<li>Strasbourg</li>
<li>Toulouse</li>
<li>Tours</li>
</settlement>
</list>
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<name sortKey="Briot, Philippe" sort="Briot, Philippe" uniqKey="Briot P" first="Philippe" last="Briot">Philippe Briot</name>
<name sortKey="Brun, Amandine" sort="Brun, Amandine" uniqKey="Brun A" first="Amandine" last="Brun">Amandine Brun</name>
<name sortKey="Brun, Amandine" sort="Brun, Amandine" uniqKey="Brun A" first="Amandine" last="Brun">Amandine Brun</name>
<name sortKey="Bussy, Gerald" sort="Bussy, Gerald" uniqKey="Bussy G" first="Gérald" last="Bussy">Gérald Bussy</name>
<name sortKey="Bussy, Gerald" sort="Bussy, Gerald" uniqKey="Bussy G" first="Gérald" last="Bussy">Gérald Bussy</name>
<name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<name sortKey="Cheylus, Anne" sort="Cheylus, Anne" uniqKey="Cheylus A" first="Anne" last="Cheylus">Anne Cheylus</name>
<name sortKey="Chiron, Catherine" sort="Chiron, Catherine" uniqKey="Chiron C" first="Catherine" last="Chiron">Catherine Chiron</name>
<name sortKey="Cossee, Mireille" sort="Cossee, Mireille" uniqKey="Cossee M" first="Mireille" last="Cossée">Mireille Cossée</name>
<name sortKey="Curie, Aurore" sort="Curie, Aurore" uniqKey="Curie A" first="Aurore" last="Curie">Aurore Curie</name>
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<name sortKey="Delange, Karine" sort="Delange, Karine" uniqKey="Delange K" first="Karine" last="Delange">Karine Delange</name>
<name sortKey="Delange, Karine" sort="Delange, Karine" uniqKey="Delange K" first="Karine" last="Delange">Karine Delange</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="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</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="Gilbert Dussardier, Brigitte" sort="Gilbert Dussardier, Brigitte" uniqKey="Gilbert Dussardier B" first="Brigitte" last="Gilbert-Dussardier">Brigitte Gilbert-Dussardier</name>
<name sortKey="Kauffmann, Didier" sort="Kauffmann, Didier" uniqKey="Kauffmann D" first="Didier" last="Kauffmann">Didier Kauffmann</name>
<name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<name sortKey="Laugel, Vincent" sort="Laugel, Vincent" uniqKey="Laugel V" first="Vincent" last="Laugel">Vincent Laugel</name>
<name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name>
<name sortKey="Marignier, Stephanie" sort="Marignier, Stephanie" uniqKey="Marignier S" first="Stéphanie" last="Marignier">Stéphanie Marignier</name>
<name sortKey="Mortemousque, Isabelle" sort="Mortemousque, Isabelle" uniqKey="Mortemousque I" first="Isabelle" last="Mortemousque">Isabelle Mortemousque</name>
<name sortKey="Nazir, Tatjana" sort="Nazir, Tatjana" uniqKey="Nazir T" first="Tatjana" last="Nazir">Tatjana Nazir</name>
<name sortKey="Paulignan, Yves" sort="Paulignan, Yves" uniqKey="Paulignan Y" first="Yves" last="Paulignan">Yves Paulignan</name>
<name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name>
<name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name>
<name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<name sortKey="Reboul, Anne" sort="Reboul, Anne" uniqKey="Reboul A" first="Anne" last="Reboul">Anne Reboul</name>
<name sortKey="Rochefort, Fanny" sort="Rochefort, Fanny" uniqKey="Rochefort F" first="Fanny" last="Rochefort">Fanny Rochefort</name>
<name sortKey="Rooryck Thambo, Caroline" sort="Rooryck Thambo, Caroline" uniqKey="Rooryck Thambo C" first="Caroline" last="Rooryck-Thambo">Caroline Rooryck-Thambo</name>
<name sortKey="Roy, Alice" sort="Roy, Alice" uniqKey="Roy A" first="Alice" last="Roy">Alice Roy</name>
<name sortKey="Sacco, Silvia" sort="Sacco, Silvia" uniqKey="Sacco S" first="Silvia" last="Sacco">Silvia Sacco</name>
<name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<name sortKey="Souville, Isabelle" sort="Souville, Isabelle" uniqKey="Souville I" first="Isabelle" last="Souville">Isabelle Souville</name>
<name sortKey="Till, Michel" sort="Till, Michel" uniqKey="Till M" first="Michel" last="Till">Michel Till</name>
<name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name>
<name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
</country>
<country name="États-Unis"><region name="Massachusetts"><name sortKey="Curie, Aurore" sort="Curie, Aurore" uniqKey="Curie A" first="Aurore" last="Curie">Aurore Curie</name>
</region>
<name sortKey="Freeman, Sonya" sort="Freeman, Sonya" uniqKey="Freeman S" first="Sonya" last="Freeman">Sonya Freeman</name>
<name sortKey="Gollub, Randy L" sort="Gollub, Randy L" uniqKey="Gollub R" first="Randy L" last="Gollub">Randy L. Gollub</name>
<name sortKey="Hadjikhani, Nouchine" sort="Hadjikhani, Nouchine" uniqKey="Hadjikhani N" first="Nouchine" last="Hadjikhani">Nouchine Hadjikhani</name>
<name sortKey="Kong, Jian" sort="Kong, Jian" uniqKey="Kong J" first="Jian" last="Kong">Jian Kong</name>
</country>
</tree>
</affiliations>
</record>
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