The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
Identifieur interne : 000412 ( Pmc/Curation ); précédent : 000411; suivant : 000413The 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
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gene: a unique developmental-model of limb kinetic apraxia</title>
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<author><name sortKey="Delange, Karine" sort="Delange, Karine" uniqKey="Delange K" first="Karine" last="Delange">Karine Delange</name>
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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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<author><name sortKey="Bertrand, Sophie" sort="Bertrand, Sophie" uniqKey="Bertrand S" first="Sophie" last="Bertrand">Sophie Bertrand</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>
<wicri:regionArea>Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron</wicri:regionArea>
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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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<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>
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<author><name sortKey="Cossee, Mireille" sort="Cossee, Mireille" uniqKey="Cossee M" first="Mireille" last="Cossée">Mireille Cossée</name>
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<wicri:regionArea>Génétique moléculaire, Strasbourg</wicri:regionArea>
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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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<wicri:regionArea>Génétique, Nancy</wicri:regionArea>
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<author><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name>
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<author><name sortKey="Laugel, Vincent" sort="Laugel, Vincent" uniqKey="Laugel V" first="Vincent" last="Laugel">Vincent Laugel</name>
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<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>
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<author><name sortKey="Sacco, Silvia" sort="Sacco, Silvia" uniqKey="Sacco S" first="Silvia" last="Sacco">Silvia Sacco</name>
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<wicri:regionArea>Neuropédiatrie, Hôpital Trousseau, Paris</wicri:regionArea>
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<author><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name>
<affiliation wicri:level="1"><nlm:aff id="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, Paris</wicri:regionArea>
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</author>
<author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Souville, Isabelle" sort="Souville, Isabelle" uniqKey="Souville I" first="Isabelle" last="Souville">Isabelle Souville</name>
<affiliation wicri:level="1"><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>
</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="1"><nlm:aff id="I12">Génétique, Poitiers, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Poitiers</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name>
<affiliation wicri:level="1"><nlm:aff id="I13">Génétique, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Toulouse</wicri:regionArea>
</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>
</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>
</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="1"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Till, Michel" sort="Till, Michel" uniqKey="Till M" first="Michel" last="Till">Michel Till</name>
<affiliation wicri:level="1"><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>
</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="1"><nlm:aff id="I5">Génétique, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Bordeaux</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mortemousque, Isabelle" sort="Mortemousque, Isabelle" uniqKey="Mortemousque I" first="Isabelle" last="Mortemousque">Isabelle Mortemousque</name>
<affiliation wicri:level="1"><nlm:aff id="I18">Génétique, Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Tours</wicri:regionArea>
</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="1"><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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<author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1"><nlm:aff id="I18">Génétique, Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Tours</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name>
<affiliation wicri:level="1"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="1"><nlm:aff id="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Freeman, Sonya" sort="Freeman, Sonya" uniqKey="Freeman S" first="Sonya" last="Freeman">Sonya Freeman</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Kong, Jian" sort="Kong, Jian" uniqKey="Kong J" first="Jian" last="Kong">Jian Kong</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Hadjikhani, Nouchine" sort="Hadjikhani, Nouchine" uniqKey="Hadjikhani N" first="Nouchine" last="Hadjikhani">Nouchine Hadjikhani</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Roy, Alice" sort="Roy, Alice" uniqKey="Roy A" first="Alice" last="Roy">Alice Roy</name>
<affiliation wicri:level="1"><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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</author>
<author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name>
<affiliation wicri:level="1"><nlm:aff id="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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
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<idno type="pmid">24528893</idno>
<idno type="pmc">4016261</idno>
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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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<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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Nazir, Tatjana" sort="Nazir, Tatjana" uniqKey="Nazir T" first="Tatjana" last="Nazir">Tatjana Nazir</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Brun, Amandine" sort="Brun, Amandine" uniqKey="Brun A" first="Amandine" last="Brun">Amandine Brun</name>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Paulignan, Yves" sort="Paulignan, Yves" uniqKey="Paulignan Y" first="Yves" last="Paulignan">Yves Paulignan</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Reboul, Anne" sort="Reboul, Anne" uniqKey="Reboul A" first="Anne" last="Reboul">Anne Reboul</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Delange, Karine" sort="Delange, Karine" uniqKey="Delange K" first="Karine" last="Delange">Karine Delange</name>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Cheylus, Anne" sort="Cheylus, Anne" uniqKey="Cheylus A" first="Anne" last="Cheylus">Anne Cheylus</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Bertrand, Sophie" sort="Bertrand, Sophie" uniqKey="Bertrand S" first="Sophie" last="Bertrand">Sophie Bertrand</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Rochefort, Fanny" sort="Rochefort, Fanny" uniqKey="Rochefort F" first="Fanny" last="Rochefort">Fanny Rochefort</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Bussy, Gerald" sort="Bussy, Gerald" uniqKey="Bussy G" first="Gérald" last="Bussy">Gérald Bussy</name>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Marignier, Stephanie" sort="Marignier, Stephanie" uniqKey="Marignier S" first="Stéphanie" last="Marignier">Stéphanie Marignier</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="1"><nlm:aff id="I5">Génétique, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Bordeaux</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chiron, Catherine" sort="Chiron, Catherine" uniqKey="Chiron C" first="Catherine" last="Chiron">Catherine Chiron</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Cossee, Mireille" sort="Cossee, Mireille" uniqKey="Cossee M" first="Mireille" last="Cossée">Mireille Cossée</name>
<affiliation wicri:level="1"><nlm:aff id="I7">Génétique moléculaire, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name>
<affiliation wicri:level="1"><nlm:aff id="I8">Génétique, Nancy, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Nancy</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name>
<affiliation wicri:level="1"><nlm:aff id="I8">Génétique, Nancy, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Nancy</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Laugel, Vincent" sort="Laugel, Vincent" uniqKey="Laugel V" first="Vincent" last="Laugel">Vincent Laugel</name>
<affiliation wicri:level="1"><nlm:aff id="I9">Pédiatrie, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pédiatrie, Strasbourg</wicri:regionArea>
</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="1"><nlm:aff id="I9">Pédiatrie, Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pédiatrie, Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sacco, Silvia" sort="Sacco, Silvia" uniqKey="Sacco S" first="Silvia" last="Sacco">Silvia Sacco</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Souville, Isabelle" sort="Souville, Isabelle" uniqKey="Souville I" first="Isabelle" last="Souville">Isabelle Souville</name>
<affiliation wicri:level="1"><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>
</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="1"><nlm:aff id="I12">Génétique, Poitiers, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Poitiers</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name>
<affiliation wicri:level="1"><nlm:aff id="I13">Génétique, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Toulouse</wicri:regionArea>
</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>
</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>
</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="1"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Till, Michel" sort="Till, Michel" uniqKey="Till M" first="Michel" last="Till">Michel Till</name>
<affiliation wicri:level="1"><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>
</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="1"><nlm:aff id="I5">Génétique, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Bordeaux</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mortemousque, Isabelle" sort="Mortemousque, Isabelle" uniqKey="Mortemousque I" first="Isabelle" last="Mortemousque">Isabelle Mortemousque</name>
<affiliation wicri:level="1"><nlm:aff id="I18">Génétique, Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Tours</wicri:regionArea>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1"><nlm:aff id="I18">Génétique, Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Tours</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name>
<affiliation wicri:level="1"><nlm:aff id="I16">Génétique, Saint-Etienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique, Saint-Etienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="1"><nlm:aff id="I11">Génétique moléculaire, Hôpital Cochin, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Génétique moléculaire, Hôpital Cochin, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Freeman, Sonya" sort="Freeman, Sonya" uniqKey="Freeman S" first="Sonya" last="Freeman">Sonya Freeman</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Kong, Jian" sort="Kong, Jian" uniqKey="Kong J" first="Jian" last="Kong">Jian Kong</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Hadjikhani, Nouchine" sort="Hadjikhani, Nouchine" uniqKey="Hadjikhani N" first="Nouchine" last="Hadjikhani">Nouchine Hadjikhani</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Roy, Alice" sort="Roy, Alice" uniqKey="Roy A" first="Alice" last="Roy">Alice Roy</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name>
<affiliation wicri:level="1"><nlm:aff id="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>
</affiliation>
<affiliation wicri:level="1"><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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
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</listBibl>
</div1>
</back>
</TEI>
<pmc article-type="research-article" xml:lang="en"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Orphanet J Rare Dis</journal-id>
<journal-id journal-id-type="iso-abbrev">Orphanet J Rare Dis</journal-id>
<journal-title-group><journal-title>Orphanet Journal of Rare Diseases</journal-title>
</journal-title-group>
<issn pub-type="epub">1750-1172</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24528893</article-id>
<article-id pub-id-type="pmc">4016261</article-id>
<article-id pub-id-type="publisher-id">1750-1172-9-25</article-id>
<article-id pub-id-type="doi">10.1186/1750-1172-9-25</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research</subject>
</subj-group>
</article-categories>
<title-group><article-title>The c.429_452 duplication of the <italic>ARX</italic>
gene: a unique developmental-model of limb kinetic apraxia</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes" id="A1"><name><surname>Curie</surname>
<given-names>Aurore</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I2">2</xref>
<xref ref-type="aff" rid="I3">3</xref>
<xref ref-type="aff" rid="I4">4</xref>
<email>aurorecurie@yahoo.fr</email>
</contrib>
<contrib contrib-type="author" id="A2"><name><surname>Nazir</surname>
<given-names>Tatjana</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>tnazir@isc.cnrs.fr</email>
</contrib>
<contrib contrib-type="author" id="A3"><name><surname>Brun</surname>
<given-names>Amandine</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I2">2</xref>
<email>amandine.brun@isc.cnrs.fr</email>
</contrib>
<contrib contrib-type="author" id="A4"><name><surname>Paulignan</surname>
<given-names>Yves</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>paulignan@isc.cnrs.fr</email>
</contrib>
<contrib contrib-type="author" id="A5"><name><surname>Reboul</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>reboul@isc.cnrs.fr</email>
</contrib>
<contrib contrib-type="author" id="A6"><name><surname>Delange</surname>
<given-names>Karine</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I2">2</xref>
<email>ka1777@hotmail.com</email>
</contrib>
<contrib contrib-type="author" id="A7"><name><surname>Cheylus</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>acheylus@isc.cnrs.fr</email>
</contrib>
<contrib contrib-type="author" id="A8"><name><surname>Bertrand</surname>
<given-names>Sophie</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>corbeau-brillant@hotmail.fr</email>
</contrib>
<contrib contrib-type="author" id="A9"><name><surname>Rochefort</surname>
<given-names>Fanny</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>fanny-rochefort@hotmail.fr</email>
</contrib>
<contrib contrib-type="author" id="A10"><name><surname>Bussy</surname>
<given-names>Gérald</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I2">2</xref>
<email>bussygerald@yahoo.fr</email>
</contrib>
<contrib contrib-type="author" id="A11"><name><surname>Marignier</surname>
<given-names>Stéphanie</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>stephanie.marignier@chu-lyon.fr</email>
</contrib>
<contrib contrib-type="author" id="A12"><name><surname>Lacombe</surname>
<given-names>Didier</given-names>
</name>
<xref ref-type="aff" rid="I5">5</xref>
<email>didier.lacombe@chu-bordeaux.fr</email>
</contrib>
<contrib contrib-type="author" id="A13"><name><surname>Chiron</surname>
<given-names>Catherine</given-names>
</name>
<xref ref-type="aff" rid="I6">6</xref>
<email>catherine.chiron@nck.aphp.fr</email>
</contrib>
<contrib contrib-type="author" id="A14"><name><surname>Cossée</surname>
<given-names>Mireille</given-names>
</name>
<xref ref-type="aff" rid="I7">7</xref>
<email>mireille.cossee@inserm.fr</email>
</contrib>
<contrib contrib-type="author" id="A15"><name><surname>Leheup</surname>
<given-names>Bruno</given-names>
</name>
<xref ref-type="aff" rid="I8">8</xref>
<email>b.leheup@chu-nancy.fr</email>
</contrib>
<contrib contrib-type="author" id="A16"><name><surname>Philippe</surname>
<given-names>Christophe</given-names>
</name>
<xref ref-type="aff" rid="I8">8</xref>
<email>c.philippe@chu-nancy.fr</email>
</contrib>
<contrib contrib-type="author" id="A17"><name><surname>Laugel</surname>
<given-names>Vincent</given-names>
</name>
<xref ref-type="aff" rid="I9">9</xref>
<email>vincent.laugel@chru-strasbourg.fr</email>
</contrib>
<contrib contrib-type="author" id="A18"><name><surname>De Saint Martin</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="I9">9</xref>
<email>Anne.DESAINTMARTIN@chru-strasbourg.fr</email>
</contrib>
<contrib contrib-type="author" id="A19"><name><surname>Sacco</surname>
<given-names>Silvia</given-names>
</name>
<xref ref-type="aff" rid="I10">10</xref>
<email>silvia.sacco@free.fr</email>
</contrib>
<contrib contrib-type="author" id="A20"><name><surname>Poirier</surname>
<given-names>Karine</given-names>
</name>
<xref ref-type="aff" rid="I11">11</xref>
<email>karine.poirier@inserm.fr</email>
</contrib>
<contrib contrib-type="author" id="A21"><name><surname>Bienvenu</surname>
<given-names>Thierry</given-names>
</name>
<xref ref-type="aff" rid="I11">11</xref>
<email>thierry.bienvenu@inserm.fr</email>
</contrib>
<contrib contrib-type="author" id="A22"><name><surname>Souville</surname>
<given-names>Isabelle</given-names>
</name>
<xref ref-type="aff" rid="I11">11</xref>
<email>isabelle.souville@cch.aphp.fr</email>
</contrib>
<contrib contrib-type="author" id="A23"><name><surname>Gilbert-Dussardier</surname>
<given-names>Brigitte</given-names>
</name>
<xref ref-type="aff" rid="I12">12</xref>
<email>Brigitte.GILBERT-DUSSARDIER@chu-poitiers.fr</email>
</contrib>
<contrib contrib-type="author" id="A24"><name><surname>Bieth</surname>
<given-names>Eric</given-names>
</name>
<xref ref-type="aff" rid="I13">13</xref>
<email>bieth.e@chu-toulouse.fr</email>
</contrib>
<contrib contrib-type="author" id="A25"><name><surname>Kauffmann</surname>
<given-names>Didier</given-names>
</name>
<xref ref-type="aff" rid="I14">14</xref>
<email>d.KAUFFMANN@fondation-sonnenhof.org</email>
</contrib>
<contrib contrib-type="author" id="A26"><name><surname>Briot</surname>
<given-names>Philippe</given-names>
</name>
<xref ref-type="aff" rid="I15">15</xref>
<email>philippe.briot@club-internet.fr</email>
</contrib>
<contrib contrib-type="author" id="A27"><name><surname>de Fréminville</surname>
<given-names>Bénédicte</given-names>
</name>
<xref ref-type="aff" rid="I16">16</xref>
<email>benedicte.de.freminville@chu-st-etienne.fr</email>
</contrib>
<contrib contrib-type="author" id="A28"><name><surname>Prieur</surname>
<given-names>Fabienne</given-names>
</name>
<xref ref-type="aff" rid="I16">16</xref>
<email>fabienne.prieur@chu-st-etienne.fr</email>
</contrib>
<contrib contrib-type="author" id="A29"><name><surname>Till</surname>
<given-names>Michel</given-names>
</name>
<xref ref-type="aff" rid="I17">17</xref>
<email>dr.till.mi@wanadoo.fr</email>
</contrib>
<contrib contrib-type="author" id="A30"><name><surname>Rooryck-Thambo</surname>
<given-names>Caroline</given-names>
</name>
<xref ref-type="aff" rid="I5">5</xref>
<email>caroline.rooryck-thambo@chu-bordeaux.fr</email>
</contrib>
<contrib contrib-type="author" id="A31"><name><surname>Mortemousque</surname>
<given-names>Isabelle</given-names>
</name>
<xref ref-type="aff" rid="I18">18</xref>
<email>I.MORTEMOUSQUE@chu-tours.fr</email>
</contrib>
<contrib contrib-type="author" id="A32"><name><surname>Bobillier-Chaumont</surname>
<given-names>Isabelle</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>ibobillier@yahoo.fr</email>
</contrib>
<contrib contrib-type="author" id="A33"><name><surname>Toutain</surname>
<given-names>Annick</given-names>
</name>
<xref ref-type="aff" rid="I18">18</xref>
<email>annick.toutain@univ-tours.fr</email>
</contrib>
<contrib contrib-type="author" id="A34"><name><surname>Touraine</surname>
<given-names>Renaud</given-names>
</name>
<xref ref-type="aff" rid="I16">16</xref>
<email>renaud.touraine@chu-st-etienne.fr</email>
</contrib>
<contrib contrib-type="author" id="A35"><name><surname>Sanlaville</surname>
<given-names>Damien</given-names>
</name>
<xref ref-type="aff" rid="I19">19</xref>
<email>damien.sanlaville@chu-lyon.fr</email>
</contrib>
<contrib contrib-type="author" id="A36"><name><surname>Chelly</surname>
<given-names>Jamel</given-names>
</name>
<xref ref-type="aff" rid="I11">11</xref>
<email>jamel.chelly@inserm.fr</email>
</contrib>
<contrib contrib-type="author" id="A37"><name><surname>Freeman</surname>
<given-names>Sonya</given-names>
</name>
<xref ref-type="aff" rid="I4">4</xref>
<email>SFREEMAN3@partners.org</email>
</contrib>
<contrib contrib-type="author" id="A38"><name><surname>Kong</surname>
<given-names>Jian</given-names>
</name>
<xref ref-type="aff" rid="I4">4</xref>
<email>kongj@nmr.mgh.harvard.edu</email>
</contrib>
<contrib contrib-type="author" id="A39"><name><surname>Hadjikhani</surname>
<given-names>Nouchine</given-names>
</name>
<xref ref-type="aff" rid="I4">4</xref>
<email>nouchine@nmr.mgh.harvard.edu</email>
</contrib>
<contrib contrib-type="author" id="A40"><name><surname>Gollub</surname>
<given-names>Randy L</given-names>
</name>
<xref ref-type="aff" rid="I4">4</xref>
<email>rgollub@partners.org</email>
</contrib>
<contrib contrib-type="author" id="A41"><name><surname>Roy</surname>
<given-names>Alice</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>alice.roy@isc.cnrs.fr</email>
</contrib>
<contrib contrib-type="author" id="A42"><name><surname>des Portes</surname>
<given-names>Vincent</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I2">2</xref>
<xref ref-type="aff" rid="I3">3</xref>
<email>vincent.desportes@chu-lyon.fr</email>
</contrib>
</contrib-group>
<aff id="I1"><label>1</label>
Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France</aff>
<aff id="I2"><label>2</label>
CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France</aff>
<aff id="I3"><label>3</label>
Université de Lyon, Faculté de médecine Lyon Sud - Charles Mérieux, F-69008 Lyon, France</aff>
<aff id="I4"><label>4</label>
Athinoula A Martinos Center for Biomedial Imaging, Massachusetts General Hospital, Charlestown, MA, USA</aff>
<aff id="I5"><label>5</label>
Génétique, Bordeaux, France</aff>
<aff id="I6"><label>6</label>
INSERM UMR 663, Hôpital Necker-Enfants malades, Paris, France</aff>
<aff id="I7"><label>7</label>
Génétique moléculaire, Strasbourg, France</aff>
<aff id="I8"><label>8</label>
Génétique, Nancy, France</aff>
<aff id="I9"><label>9</label>
Pédiatrie, Strasbourg, France</aff>
<aff id="I10"><label>10</label>
Neuropédiatrie, Hôpital Trousseau, Paris, France</aff>
<aff id="I11"><label>11</label>
Génétique moléculaire, Hôpital Cochin, Paris, France</aff>
<aff id="I12"><label>12</label>
Génétique, Poitiers, France</aff>
<aff id="I13"><label>13</label>
Génétique, Toulouse, France</aff>
<aff id="I14"><label>14</label>
Fondation Sonnenhof, Bischwiller, France</aff>
<aff id="I15"><label>15</label>
MAS de Courcouronnes, Courcouronnes, France</aff>
<aff id="I16"><label>16</label>
Génétique, Saint-Etienne, France</aff>
<aff id="I17"><label>17</label>
Médecine interne, Hôpital Saint Luc Saint Joseph, Lyon, France</aff>
<aff id="I18"><label>18</label>
Génétique, Tours, France</aff>
<aff id="I19"><label>19</label>
Service de génétique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, CRNL, CNRS UMR5292, INSERM U1028, Université Claude Bernard Lyon I, Lyon, France</aff>
<pub-date pub-type="collection"><year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>14</day>
<month>2</month>
<year>2014</year>
</pub-date>
<volume>9</volume>
<fpage>25</fpage>
<lpage>25</lpage>
<history><date date-type="received"><day>5</day>
<month>9</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>22</day>
<month>1</month>
<year>2014</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2014 Curie et al.; licensee BioMed Central Ltd.</copyright-statement>
<copyright-year>2014</copyright-year>
<copyright-holder>Curie et al.; licensee BioMed Central Ltd.</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>
) applies to the data made available in this article, unless otherwise stated.</license-p>
</license>
</permissions>
<self-uri xlink:href="http://www.ojrd.com/content/9/1/25"></self-uri>
<abstract><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>
</abstract>
<kwd-group><kwd><italic>ARX</italic>
gene mutation</kwd>
<kwd>Kinematic study</kwd>
<kwd>Limb-kinetic apraxia</kwd>
<kwd>X-linked intellectual disability</kwd>
<kwd>Partington syndrome</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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