AustralieFrV1, Main, Exploration, bibRecord, 004235

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Identifieur interne : 004235 ( Main/Exploration ); précédent : 004234; suivant : 004236

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Auteurs : Aurélie Meneret [France] ; Christel Depienne [France] ; Florence Riant [France] ; Oriane Trouillard [France] ; Delphine Bouteiller [France] ; Massimo Cincotta [Italie] ; Pierre Bitoun [France] ; Julia Wickert [Allemagne] ; Isabelle Lagroua [France] ; Ana Westenberger [Allemagne] ; Alessandra Borgheresi [France] ; Diane Doummar [France] ; Marcello Romano [Italie] ; Simone Rossi [Italie] ; Luc Defebvre [France] ; Linda De Meirleir [Belgique] ; Alberto J. Espay [États-Unis] ; Simona Fiori [Italie] ; Stephan Klebe [Allemagne] ; Chloé Quelin [France] ; Sabine Rudnik-Schöneborn [Allemagne] ; Ghislaine Plessis [France] ; Russell C. Dale [Australie] ; Susan Sklower Brooks ; Karolina Dziezyc ; Pierre Pollak ; Jean-Louis Golmard [France] ; Marie Vidailhet [France] ; Alexis Brice [France, Italie] ; Emmanuel Roze [France]

Source :

Neurology [ 0028-3878 ] ; 2014.

RBID : Pascal:14-0154183

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Congénital, Miroir.

English descriptors

KwdEn :
- Congenital, Mirror, Nervous system diseases.

Abstract

Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259

Affiliations:

Le document en format XML

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<author><name sortKey="Wickert, Julia" sort="Wickert, Julia" uniqKey="Wickert J" first="Julia" last="Wickert">Julia Wickert</name>
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<author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
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<author><name sortKey="Romano, Marcello" sort="Romano, Marcello" uniqKey="Romano M" first="Marcello" last="Romano">Marcello Romano</name>
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<author><name sortKey="Rossi, Simone" sort="Rossi, Simone" uniqKey="Rossi S" first="Simone" last="Rossi">Simone Rossi</name>
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<author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J." last="Espay">Alberto J. Espay</name>
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<author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name>
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<author><name sortKey="Quelin, Chloe" sort="Quelin, Chloe" uniqKey="Quelin C" first="Chloé" last="Quelin">Chloé Quelin</name>
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<author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C." last="Dale">Russell C. Dale</name>
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<country>Australie</country>
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</author>
<author><name sortKey="Brooks, Susan Sklower" sort="Brooks, Susan Sklower" uniqKey="Brooks S" first="Susan Sklower" last="Brooks">Susan Sklower Brooks</name>
</author>
<author><name sortKey="Dziezyc, Karolina" sort="Dziezyc, Karolina" uniqKey="Dziezyc K" first="Karolina" last="Dziezyc">Karolina Dziezyc</name>
</author>
<author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name>
</author>
<author><name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean-Louis" last="Golmard">Jean-Louis Golmard</name>
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<s2>Paris</s2>
<s3>FRA</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases</title>
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</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP</s1>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Université Pierre et Marie Curie-Paris-6, UMR_S 975</s1>
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<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<country>France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
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</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Federation de Génétique, Département de Génétique et de Cytogénétique, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Université Pierre et Marie Curie-Paris-6, UMR_S 975</s1>
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<s3>FRA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Riant, Florence" sort="Riant, Florence" uniqKey="Riant F" first="Florence" last="Riant">Florence Riant</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Laboratoire de Génétique, Groupe hospitalier Lariboisière-Fernand Widal, AP-HP</s1>
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<s3>FRA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>INSERM UMR_S740, Université Paris 7 Denis Diderot</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U 975, and CNRS 7225-CRICM, Hôpital Pitié-Salpêtrière, AP-HP</s1>
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<sZ>1 aut.</sZ>
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<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>28 aut.</sZ>
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<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Bouteiller, Delphine" sort="Bouteiller, Delphine" uniqKey="Bouteiller D" first="Delphine" last="Bouteiller">Delphine Bouteiller</name>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Cincotta, Massimo" sort="Cincotta, Massimo" uniqKey="Cincotta M" first="Massimo" last="Cincotta">Massimo Cincotta</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Unit of Neurology , Florence Health Authority</s1>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Unit of Neurology , Florence Health Authority</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Génétique Médicale, CHU Paris Nord, Hôpital Jean Verdier</s1>
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<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
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</affiliation>
</author>
<author><name sortKey="Wickert, Julia" sort="Wickert, Julia" uniqKey="Wickert J" first="Julia" last="Wickert">Julia Wickert</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Department of Human Genetics, University Medical Center Hamburg-Eppendorf</s1>
<s2>Hamburg</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Lagroua, Isabelle" sort="Lagroua, Isabelle" uniqKey="Lagroua I" first="Isabelle" last="Lagroua">Isabelle Lagroua</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U 975, and CNRS 7225-CRICM, Hôpital Pitié-Salpêtrière, AP-HP</s1>
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<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Banque d'ADN et de cellules, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Institute of Neurogenetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Institute of Neurogenetics, University of Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Borgheresi, Alessandra" sort="Borgheresi, Alessandra" uniqKey="Borgheresi A" first="Alessandra" last="Borgheresi">Alessandra Borgheresi</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Federation de Génétique, Département de Génétique et de Cytogénétique, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
<affiliation wicri:level="3"><inist:fA14 i1="14"><s1>Service de Neuropédiatrie, Hôpital Trousseau, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Romano, Marcello" sort="Romano, Marcello" uniqKey="Romano M" first="Marcello" last="Romano">Marcello Romano</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Unit of Neurology, Villa Sofia-Cervello Hospital</s1>
<s2>Palermo</s2>
<s3>ITA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Palermo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rossi, Simone" sort="Rossi, Simone" uniqKey="Rossi S" first="Simone" last="Rossi">Simone Rossi</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Neuroscience, Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena</s1>
<s3>ITA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neuroscience, Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<affiliation wicri:level="3"><inist:fA14 i1="17"><s1>Neurologie et Pathologie du Mouvement, Neurologic A, Hopital Salengro, Centre Hospitalier Universitaire, EA 1046</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="De Meirleir, Linda" sort="De Meirleir, Linda" uniqKey="De Meirleir L" first="Linda" last="De Meirleir">Linda De Meirleir</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Pediatric Neurology and Metabolism, Universitar Ziekenhuis Brussel</s1>
<s3>BEL</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>Pediatric Neurology and Metabolism, Universitar Ziekenhuis Brussel</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J." last="Espay">Alberto J. Espay</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders, University of Cincinnati Academic Health Center</s1>
<s2>Cincinnati, OH</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Cincinnati, OH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fiori, Simona" sort="Fiori, Simona" uniqKey="Fiori S" first="Simona" last="Fiori">Simona Fiori</name>
<affiliation wicri:level="3"><inist:fA14 i1="20"><s1>IRCCS Fondazione Stella Maris</s1>
<s2>Calambrone, Pisa</s2>
<s3>ITA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name>
<affiliation wicri:level="1"><inist:fA14 i1="21"><s1>Department of Neurology, University Hospital Würzburg</s1>
<s3>DEU</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University Hospital Würzburg</wicri:noRegion>
<wicri:noRegion>Department of Neurology, University Hospital Würzburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quelin, Chloe" sort="Quelin, Chloe" uniqKey="Quelin C" first="Chloé" last="Quelin">Chloé Quelin</name>
<affiliation wicri:level="3"><inist:fA14 i1="22"><s1>Service de Génétique Clinique, Hôpital Sud</s1>
<s2>Rennes</s2>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Région Bretagne</region>
<region type="old region">Région Bretagne</region>
<settlement type="city">Rennes</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rudnik Schoneborn, Sabine" sort="Rudnik Schoneborn, Sabine" uniqKey="Rudnik Schoneborn S" first="Sabine" last="Rudnik-Schöneborn">Sabine Rudnik-Schöneborn</name>
<affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Institute for Human Genetics, Uniklinik RWTH Aachen</s1>
<s3>DEU</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Uniklinik RWTH Aachen</wicri:noRegion>
<wicri:noRegion>Institute for Human Genetics, Uniklinik RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name>
<affiliation wicri:level="3"><inist:fA14 i1="24"><s1>Service de Génétique, CHU Clémenceau</s1>
<s2>Caen</s2>
<s3>FRA</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Basse-Normandie</region>
<settlement type="city">Caen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C." last="Dale">Russell C. Dale</name>
<affiliation wicri:level="4"><inist:fA14 i1="25"><s1>The Children's Hospital at Westmead, University of Sydney</s1>
<s3>AUS</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author><name sortKey="Brooks, Susan Sklower" sort="Brooks, Susan Sklower" uniqKey="Brooks S" first="Susan Sklower" last="Brooks">Susan Sklower Brooks</name>
</author>
<author><name sortKey="Dziezyc, Karolina" sort="Dziezyc, Karolina" uniqKey="Dziezyc K" first="Karolina" last="Dziezyc">Karolina Dziezyc</name>
</author>
<author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name>
</author>
<author><name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean-Louis" last="Golmard">Jean-Louis Golmard</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Biostatistics, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U 975, and CNRS 7225-CRICM, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Université Pierre et Marie Curie-Paris-6, UMR_S 975</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U 975, and CNRS 7225-CRICM, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Université Pierre et Marie Curie-Paris-6, UMR_S 975</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Unit of Neurology , Florence Health Authority</s1>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Unit of Neurology , Florence Health Authority</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U 975, and CNRS 7225-CRICM, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Centre d'Investigation Clinique Pitié Neurosciences 1422 , Hôpital Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Université Pierre et Marie Curie-Paris-6, UMR_S 975</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Congenital</term>
<term>Mirror</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Congénital</term>
<term>Miroir</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Italie</li>
<li>États-Unis</li>
</country>
<region><li>Basse-Normandie</li>
<li>Hambourg</li>
<li>Hauts-de-France</li>
<li>Nord-Pas-de-Calais</li>
<li>Nouvelle-Galles du Sud</li>
<li>Région Bretagne</li>
<li>Région Normandie</li>
<li>Toscane</li>
<li>Île-de-France</li>
</region>
<settlement><li>Caen</li>
<li>Hambourg</li>
<li>Lille</li>
<li>Paris</li>
<li>Pise</li>
<li>Rennes</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université Lille 2</li>
<li>Université Lille Nord de France</li>
<li>Université de Sydney</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Brooks, Susan Sklower" sort="Brooks, Susan Sklower" uniqKey="Brooks S" first="Susan Sklower" last="Brooks">Susan Sklower Brooks</name>
<name sortKey="Dziezyc, Karolina" sort="Dziezyc, Karolina" uniqKey="Dziezyc K" first="Karolina" last="Dziezyc">Karolina Dziezyc</name>
<name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name>
</noCountry>
<country name="France"><region name="Île-de-France"><name sortKey="Meneret, Aurelie" sort="Meneret, Aurelie" uniqKey="Meneret A" first="Aurélie" last="Meneret">Aurélie Meneret</name>
</region>
<name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name>
<name sortKey="Borgheresi, Alessandra" sort="Borgheresi, Alessandra" uniqKey="Borgheresi A" first="Alessandra" last="Borgheresi">Alessandra Borgheresi</name>
<name sortKey="Bouteiller, Delphine" sort="Bouteiller, Delphine" uniqKey="Bouteiller D" first="Delphine" last="Bouteiller">Delphine Bouteiller</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
<name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean-Louis" last="Golmard">Jean-Louis Golmard</name>
<name sortKey="Lagroua, Isabelle" sort="Lagroua, Isabelle" uniqKey="Lagroua I" first="Isabelle" last="Lagroua">Isabelle Lagroua</name>
<name sortKey="Lagroua, Isabelle" sort="Lagroua, Isabelle" uniqKey="Lagroua I" first="Isabelle" last="Lagroua">Isabelle Lagroua</name>
<name sortKey="Meneret, Aurelie" sort="Meneret, Aurelie" uniqKey="Meneret A" first="Aurélie" last="Meneret">Aurélie Meneret</name>
<name sortKey="Meneret, Aurelie" sort="Meneret, Aurelie" uniqKey="Meneret A" first="Aurélie" last="Meneret">Aurélie Meneret</name>
<name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name>
<name sortKey="Quelin, Chloe" sort="Quelin, Chloe" uniqKey="Quelin C" first="Chloé" last="Quelin">Chloé Quelin</name>
<name sortKey="Riant, Florence" sort="Riant, Florence" uniqKey="Riant F" first="Florence" last="Riant">Florence Riant</name>
<name sortKey="Riant, Florence" sort="Riant, Florence" uniqKey="Riant F" first="Florence" last="Riant">Florence Riant</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
</country>
<country name="Italie"><noRegion><name sortKey="Cincotta, Massimo" sort="Cincotta, Massimo" uniqKey="Cincotta M" first="Massimo" last="Cincotta">Massimo Cincotta</name>
</noRegion>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Fiori, Simona" sort="Fiori, Simona" uniqKey="Fiori S" first="Simona" last="Fiori">Simona Fiori</name>
<name sortKey="Romano, Marcello" sort="Romano, Marcello" uniqKey="Romano M" first="Marcello" last="Romano">Marcello Romano</name>
<name sortKey="Rossi, Simone" sort="Rossi, Simone" uniqKey="Rossi S" first="Simone" last="Rossi">Simone Rossi</name>
</country>
<country name="Allemagne"><region name="Hambourg"><name sortKey="Wickert, Julia" sort="Wickert, Julia" uniqKey="Wickert J" first="Julia" last="Wickert">Julia Wickert</name>
</region>
<name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name>
<name sortKey="Rudnik Schoneborn, Sabine" sort="Rudnik Schoneborn, Sabine" uniqKey="Rudnik Schoneborn S" first="Sabine" last="Rudnik-Schöneborn">Sabine Rudnik-Schöneborn</name>
<name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name>
</country>
<country name="Belgique"><noRegion><name sortKey="De Meirleir, Linda" sort="De Meirleir, Linda" uniqKey="De Meirleir L" first="Linda" last="De Meirleir">Linda De Meirleir</name>
</noRegion>
</country>
<country name="États-Unis"><noRegion><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J." last="Espay">Alberto J. Espay</name>
</noRegion>
</country>
<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C." last="Dale">Russell C. Dale</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

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	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.