Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH
Identifieur interne : 004D45 ( Main/Exploration ); précédent : 004D44; suivant : 004D46Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH
Auteurs : Saliha Yilmaz [France] ; Hervé Fontaine [France] ; Karène Brochet [France] ; Marie-José Gregoire [France] ; Marie-Dominique Devignes [France] ; Jean-Luc Schaff [France] ; Christophe Philippe [France] ; Christophe Nemos [France] ; John Louis Mcgregor [France] ; Philippe Jonveaux [France]Source :
- European journal of medical genetics [ 1769-7212 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
Aicardi syndrome (AIC) is an uncommon neurodevelopmental disorder affecting almost exclusively females. Chief features include infantile spasms, corpus callosal agenesis, and chorioretinal abnormalities. AIC is a sporadic disorder and hypothesized to be caused by heterozygous mutations in an X-linked gene but up to now without any defined candidate region on the X chromosome. Array based comparative genomic hybridisation (array-CGH) has become the method of choice for the detection of microdeletions and microduplications at high resolution. In this study, for the first time, 18 AIC patients were analyzed with a full coverage X chromosomal BAC arrays at a theoretical resolution of 82 kb. Copy number changes were validated by real-time quantitation (qPCR). No disease associated aberrations were identified. For such conditions as AIC, in which there are no familial cases, additional patients should be studied in order to identify rare cases with submicroscopic abnormalities, and to pursue a positional candidate gene approach.
Affiliations:
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Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan</s1><s2>54511 Vandoeuvre-les-Nancy</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement></placeName></affiliation></author><author><name sortKey="Fontaine, Herve" sort="Fontaine, Herve" uniqKey="Fontaine H" first="Hervé" last="Fontaine">Hervé Fontaine</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan</s1><s2>54511 Vandoeuvre-les-Nancy</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region 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first="Marie-José" last="Gregoire">Marie-José Gregoire</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan</s1><s2>54511 Vandoeuvre-les-Nancy</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement></placeName></affiliation></author><author><name sortKey="Devignes, Marie Dominique" sort="Devignes, Marie Dominique" uniqKey="Devignes M" first="Marie-Dominique" last="Devignes">Marie-Dominique Devignes</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>CNRS-UMR 7503, LORIA</s1><s2>54506 Vandoeuvre-les-Nancy</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement></placeName></affiliation></author><author><name sortKey="Schaff, Jean Luc" sort="Schaff, Jean Luc" uniqKey="Schaff J" first="Jean-Luc" last="Schaff">Jean-Luc Schaff</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Service de Neurologie, CHU Nancy</s1><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>CHU Nancy</wicri:noRegion><wicri:noRegion>Service de Neurologie, CHU Nancy</wicri:noRegion></affiliation></author><author><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan</s1><s2>54511 Vandoeuvre-les-Nancy</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement></placeName></affiliation></author><author><name sortKey="Nemos, Christophe" sort="Nemos, Christophe" uniqKey="Nemos C" first="Christophe" last="Nemos">Christophe Nemos</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan</s1><s2>54511 Vandoeuvre-les-Nancy</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement></placeName></affiliation></author><author><name sortKey="Mcgregor, John Louis" sort="Mcgregor, John Louis" uniqKey="Mcgregor J" first="John Louis" last="Mcgregor">John Louis Mcgregor</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>INSERM Unité 689, Hôpital Lariboisière</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="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan</s1><s2>54511 Vandoeuvre-les-Nancy</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">European journal of medical genetics </title><title level="j" type="abbreviated">Eur. J. med. genet. </title><idno type="ISSN">1769-7212</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">European journal of medical genetics </title><title level="j" type="abbreviated">Eur. J. med. genet. </title><idno type="ISSN">1769-7212</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aicardi syndrome</term><term>Copy number</term><term>High resolution</term><term>Human</term><term>Medical screening</term><term>Patient</term><term>Screening</term><term>X-Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Encéphalopathie infantile chronique d'Aicardi</term><term>Dépistage</term><term>Criblage</term><term>Nombre copie</term><term>Homme</term><term>Malade</term><term>Haute résolution</term><term>Chromosome X</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Aicardi syndrome (AIC) is an uncommon neurodevelopmental disorder affecting almost exclusively females. Chief features include infantile spasms, corpus callosal agenesis, and chorioretinal abnormalities. AIC is a sporadic disorder and hypothesized to be caused by heterozygous mutations in an X-linked gene but up to now without any defined candidate region on the X chromosome. Array based comparative genomic hybridisation (array-CGH) has become the method of choice for the detection of microdeletions and microduplications at high resolution. In this study, for the first time, 18 AIC patients were analyzed with a full coverage X chromosomal BAC arrays at a theoretical resolution of 82 kb. Copy number changes were validated by real-time quantitation (qPCR). No disease associated aberrations were identified. For such conditions as AIC, in which there are no familial cases, additional patients should be studied in order to identify rare cases with submicroscopic abnormalities, and to pursue a positional candidate gene approach.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Grand Est</li><li>Lorraine (région)</li><li>Île-de-France</li></region><settlement><li>Paris</li><li>Vandœuvre-lès-Nancy</li></settlement></list><tree><country name="France"><region name="Grand Est"><name sortKey="Yilmaz, Saliha" sort="Yilmaz, Saliha" uniqKey="Yilmaz S" first="Saliha" last="Yilmaz">Saliha Yilmaz</name></region><name sortKey="Brochet, Karene" sort="Brochet, Karene" uniqKey="Brochet K" first="Karène" last="Brochet">Karène Brochet</name><name sortKey="Devignes, Marie Dominique" sort="Devignes, Marie Dominique" uniqKey="Devignes M" first="Marie-Dominique" last="Devignes">Marie-Dominique Devignes</name><name sortKey="Fontaine, Herve" sort="Fontaine, Herve" uniqKey="Fontaine H" first="Hervé" last="Fontaine">Hervé Fontaine</name><name sortKey="Gregoire, Marie Jose" sort="Gregoire, Marie Jose" uniqKey="Gregoire M" first="Marie-José" last="Gregoire">Marie-José Gregoire</name><name sortKey="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name><name sortKey="Mcgregor, John Louis" sort="Mcgregor, John Louis" uniqKey="Mcgregor J" first="John Louis" last="Mcgregor">John Louis Mcgregor</name><name sortKey="Nemos, Christophe" sort="Nemos, Christophe" uniqKey="Nemos C" first="Christophe" last="Nemos">Christophe Nemos</name><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name><name sortKey="Schaff, Jean Luc" sort="Schaff, Jean Luc" uniqKey="Schaff J" first="Jean-Luc" last="Schaff">Jean-Luc Schaff</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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