Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Identifieur interne : 008070 ( Main/Exploration ); précédent : 008069; suivant : 008071Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Auteurs : Dorien Lugtenberg [Pays-Bas] ; Tjitske Kleefstra [Pays-Bas] ; Astrid R. Oudakker [Pays-Bas] ; Willy M. Nillesen [Pays-Bas] ; Helger G. Yntema [Pays-Bas] ; Andreas Tzschach [Allemagne] ; Martine Raynaud [France] ; Dietz Rating [Allemagne] ; Hubert Journel [France] ; Jamel Chelly [France] ; Cyril Goizet [France] ; Didier Lacombe [France] ; Jean-Michel Pedespan [France] ; Bernard Echenne [France] ; Gholamali Tariverdian [Allemagne] ; Declan O'Rourke [Irlande (pays)] ; Mary D. King [Irlande (pays)] ; Andrew Green [Irlande (pays)] ; Margriet Van Kogelenberg [Nouvelle-Zélande] ; Hilde Van Esch [Belgique] ; Jozef Gecz [Australie] ; Ben C. J. Hamel [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Arjan P. M. De Brouwer [Pays-Bas]Source :
- European journal of human genetics [ 1018-4813 ] ; 2009.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
Abstract
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy. In this study, we used multiplex ligation-dependent probe amplification to screen Xq28 including MECP2 for deletions and duplications in these patient cohorts. In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including MECP2, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by MECP2 duplications. In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients, no Xq28 duplications were detected. In total, we assessed 13 male patients with a MECP2 duplication from six unrelated families. Moderate to severe mental retardation and childhood hypotonia was noted in all patients. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. We propose to implement DNA copy number testing for MECP2 in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.
Affiliations:
- Allemagne, Australie, Belgique, France, Irlande (pays), Nouvelle-Zélande, Pays-Bas
- Bade-Wurtemberg, Centre-Val de Loire, District de Karlsruhe, Gueldre, Région Bretagne, Région Centre, Île-de-France
- Heidelberg, Nimègue, Paris, Tours, Vannes
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Pellegrin-Enfants, CHU de Bordeaux</s1><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU de Bordeaux</wicri:noRegion><wicri:noRegion>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean-Michel" last="Pedespan">Jean-Michel Pedespan</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</s1><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU de Bordeaux</wicri:noRegion><wicri:noRegion>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Service de Neuropédiatrie Hôpital Saint-Eloi, CHU de Montpellier</s1><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU de Montpellier</wicri:noRegion><wicri:noRegion>Service de Neuropédiatrie Hôpital Saint-Eloi, CHU de Montpellier</wicri:noRegion></affiliation></author><author><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Institute for Human Genetics, University Heidelberg</s1><s2>Heidelberg</s2><s3>DEU</s3><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="O Rourke, Declan" sort="O Rourke, Declan" uniqKey="O Rourke D" first="Declan" last="O'Rourke">Declan O'Rourke</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Children's University Hospital, Limited Liability Company (Limited by Shares)</s1><s2>Dublin</s2><s3>IRL</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Children's University Hospital, Limited Liability Company (Limited by Shares)</s1><s2>Dublin</s2><s3>IRL</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Green, Andrew" sort="Green, Andrew" uniqKey="Green A" first="Andrew" last="Green">Andrew Green</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Our Lady's Hospital, Crumlin and The Children's University Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>18 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>19 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country><wicri:noRegion>Dunedin</wicri:noRegion></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>20 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Genetic Medicine, Women's and Children's Hospital, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Paediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0139361</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0139361 INIST</idno><idno type="RBID">Pascal:09-0139361</idno><idno type="wicri:Area/PascalFrancis/Corpus">002F20</idno><idno type="wicri:Area/PascalFrancis/Curation">003099</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002821</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">002821</idno><idno type="wicri:doubleKey">1018-4813:2009:Lugtenberg D:structural:variation:in</idno><idno type="wicri:Area/Main/Merge">008790</idno><idno type="wicri:Area/Main/Curation">008070</idno><idno type="wicri:Area/Main/Exploration">008070</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy</title><author><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M." last="Nillesen">Willy M. Nillesen</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin-Dahlem</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Berlin-Dahlem</wicri:noRegion><wicri:noRegion>Max Planck Institute for Molecular Genetics</wicri:noRegion><wicri:noRegion>Berlin-Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Service de Génétique, CHRU de Tours</s1><s2>Tours</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><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="Rating, Dietz" sort="Rating, Dietz" uniqKey="Rating D" first="Dietz" last="Rating">Dietz Rating</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department ofPaediatric Neurology, University Children's Hospital</s1><s2>Heidelberg</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Journel, Hubert" sort="Journel, Hubert" uniqKey="Journel H" first="Hubert" last="Journel">Hubert Journel</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>CH de Vannes, Génétique Médicale</s1><s2>Vannes</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Vannes</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"><inist:fA14 i1="06"><s1>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 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="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</s1><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU de Bordeaux</wicri:noRegion><wicri:noRegion>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</s1><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU de Bordeaux</wicri:noRegion><wicri:noRegion>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean-Michel" last="Pedespan">Jean-Michel Pedespan</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</s1><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU de Bordeaux</wicri:noRegion><wicri:noRegion>Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Service de Neuropédiatrie Hôpital Saint-Eloi, CHU de Montpellier</s1><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU de Montpellier</wicri:noRegion><wicri:noRegion>Service de Neuropédiatrie Hôpital Saint-Eloi, CHU de Montpellier</wicri:noRegion></affiliation></author><author><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Institute for Human Genetics, University Heidelberg</s1><s2>Heidelberg</s2><s3>DEU</s3><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="O Rourke, Declan" sort="O Rourke, Declan" uniqKey="O Rourke D" first="Declan" last="O'Rourke">Declan O'Rourke</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Children's University Hospital, Limited Liability Company (Limited by Shares)</s1><s2>Dublin</s2><s3>IRL</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Children's University Hospital, Limited Liability Company (Limited by Shares)</s1><s2>Dublin</s2><s3>IRL</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Green, Andrew" sort="Green, Andrew" uniqKey="Green A" first="Andrew" last="Green">Andrew Green</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Our Lady's Hospital, Crumlin and The Children's University Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>18 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>19 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country><wicri:noRegion>Dunedin</wicri:noRegion></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>20 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Genetic Medicine, Women's and Children's Hospital, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Paediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author></analytic><series><title level="j" type="main">European journal of human genetics</title><title level="j" type="abbreviated">Eur. j. hum. genet.</title><idno type="ISSN">1018-4813</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">European journal of human genetics</title><title level="j" type="abbreviated">Eur. j. hum. genet.</title><idno type="ISSN">1018-4813</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cause</term><term>Chromosome duplication</term><term>Complex syndrome</term><term>Encephalopathy</term><term>Etiology</term><term>Genetics</term><term>Human</term><term>Male</term><term>Patient</term><term>Severe</term><term>Variations</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Syndrome complexe</term><term>Encéphalopathie</term><term>Variation</term><term>Duplication chromosomique</term><term>Homme</term><term>Malade</term><term>Etiologie</term><term>Cause</term><term>Mâle</term><term>Grave</term><term>Génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy. In this study, we used multiplex ligation-dependent probe amplification to screen Xq28 including MECP2 for deletions and duplications in these patient cohorts. In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including MECP2, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by MECP2 duplications. In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients, no Xq28 duplications were detected. In total, we assessed 13 male patients with a MECP2 duplication from six unrelated families. Moderate to severe mental retardation and childhood hypotonia was noted in all patients. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. We propose to implement DNA copy number testing for MECP2 in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Irlande (pays)</li><li>Nouvelle-Zélande</li><li>Pays-Bas</li></country><region><li>Bade-Wurtemberg</li><li>Centre-Val de Loire</li><li>District de Karlsruhe</li><li>Gueldre</li><li>Région Bretagne</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Heidelberg</li><li>Nimègue</li><li>Paris</li><li>Tours</li><li>Vannes</li></settlement></list><tree><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name></region><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M." last="Nillesen">Willy M. Nillesen</name><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name></country><country name="Allemagne"><noRegion><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name></noRegion><name sortKey="Rating, Dietz" sort="Rating, Dietz" uniqKey="Rating D" first="Dietz" last="Rating">Dietz Rating</name><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name></country><country name="France"><region name="Centre-Val de Loire"><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></region><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><name sortKey="Journel, Hubert" sort="Journel, Hubert" uniqKey="Journel H" first="Hubert" last="Journel">Hubert Journel</name><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean-Michel" last="Pedespan">Jean-Michel Pedespan</name></country><country name="Irlande (pays)"><noRegion><name sortKey="O Rourke, Declan" sort="O Rourke, Declan" uniqKey="O Rourke D" first="Declan" last="O'Rourke">Declan O'Rourke</name></noRegion><name sortKey="Green, Andrew" sort="Green, Andrew" uniqKey="Green A" first="Andrew" last="Green">Andrew Green</name><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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