InforLorV4, PascalFrancis, Corpus, bibRecord, 000347

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH

Identifieur interne : 000347 ( PascalFrancis/Corpus ); précédent : 000346; suivant : 000348

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH

Auteurs : Saliha Yilmaz ; Hervé Fontaine ; Karène Brochet ; Marie-José Gregoire ; Marie-Dominique Devignes ; Jean-Luc Schaff ; Christophe Philippe ; Christophe Nemos ; John Louis Mcgregor ; Philippe Jonveaux

Source :

European journal of medical genetics [ 1769-7212 ] ; 2007.

RBID : Pascal:08-0041201

Descripteurs français

Pascal (Inist)
- Encéphalopathie infantile chronique d'Aicardi, Dépistage, Criblage, Nombre copie, Homme, Malade, Haute résolution, Chromosome X.

English descriptors

KwdEn :
- Aicardi syndrome, Copy number, High resolution, Human, Medical screening, Patient, Screening, X-Chromosome.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH`
A11	`01`	`1`		`@1 YILMAZ (Saliha)`
A11	`02`	`1`		`@1 FONTAINE (Hervé)`
A11	`03`	`1`		`@1 BROCHET (Karène)`
A11	`04`	`1`		`@1 GREGOIRE (Marie-José)`
A11	`05`	`1`		`@1 DEVIGNES (Marie-Dominique)`
A11	`06`	`1`		`@1 SCHAFF (Jean-Luc)`
A11	`07`	`1`		`@1 PHILIPPE (Christophe)`
A11	`08`	`1`		`@1 NEMOS (Christophe)`
A11	`09`	`1`		`@1 MCGREGOR (John Louis)`
A11	`10`	`1`		`@1 JONVEAUX (Philippe)`
A14	`01`			`@1 Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan @2 54511 Vandoeuvre-les-Nancy @3 FRA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 7 aut. @Z 8 aut. @Z 10 aut.`
A14	`02`			`@1 CNRS-UMR 7503, LORIA @2 54506 Vandoeuvre-les-Nancy @3 FRA @Z 5 aut.`
A14	`03`			`@1 Service de Neurologie, CHU Nancy @3 FRA @Z 6 aut.`
A14	`04`			`@1 INSERM Unité 689, Hôpital Lariboisière @2 Paris @3 FRA @Z 9 aut.`
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A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002A04`
C02	`02`	`X`		`@0 002A07`
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C03	`01`	`X`	`ENG`	`@0 Aicardi syndrome @5 01`
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C03	`02`	`X`	`ENG`	`@0 Medical screening @5 09`
C03	`02`	`X`	`SPA`	`@0 Descubrimiento @5 09`
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C03	`05`	`X`	`SPA`	`@0 Hombre @5 12`
C03	`06`	`X`	`FRE`	`@0 Malade @5 13`
C03	`06`	`X`	`ENG`	`@0 Patient @5 13`
C03	`06`	`X`	`SPA`	`@0 Enfermo @5 13`
C03	`07`	`X`	`FRE`	`@0 Haute résolution @5 14`
C03	`07`	`X`	`ENG`	`@0 High resolution @5 14`
C03	`07`	`X`	`SPA`	`@0 Alta resolucion @5 14`
C03	`08`	`X`	`FRE`	`@0 Chromosome X @5 15`
C03	`08`	`X`	`ENG`	`@0 X-Chromosome @5 15`
C03	`08`	`X`	`SPA`	`@0 Cromosoma X @5 15`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Maladie congénitale @5 38`
C07	`02`	`X`	`ENG`	`@0 Congenital disease @5 38`
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C07	`03`	`X`	`FRE`	`@0 Malformation @5 39`
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C07	`04`	`X`	`FRE`	`@0 Pathologie de l'oeil @5 40`
C07	`04`	`X`	`ENG`	`@0 Eye disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Ojo patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 41`
C07	`05`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 42`
C07	`06`	`X`	`ENG`	`@0 Nervous system diseases @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervioso patología @5 42`
N21				`@1 021`

Format Inist (serveur)

NO :	PASCAL 08-0041201 INIST
ET :	Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH
AU :	YILMAZ (Saliha); FONTAINE (Hervé); BROCHET (Karène); GREGOIRE (Marie-José); DEVIGNES (Marie-Dominique); SCHAFF (Jean-Luc); PHILIPPE (Christophe); NEMOS (Christophe); MCGREGOR (John Louis); JONVEAUX (Philippe)
AF :	Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan/54511 Vandoeuvre-les-Nancy/France (1 aut., 2 aut., 3 aut., 4 aut., 7 aut., 8 aut., 10 aut.); CNRS-UMR 7503, LORIA/54506 Vandoeuvre-les-Nancy/France (5 aut.); Service de Neurologie, CHU Nancy/France (6 aut.); INSERM Unité 689, Hôpital Lariboisière/Paris/France (9 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	European journal of medical genetics ; ISSN 1769-7212; Pays-Bas; Da. 2007; Vol. 50; No. 5; Pp. 386-391; Bibl. 12 ref.
LA :	Anglais
EA :	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.
CC :	002A04; 002A07; 002B23A
FD :	Encéphalopathie infantile chronique d'Aicardi; Dépistage; Criblage; Nombre copie; Homme; Malade; Haute résolution; Chromosome X
FG :	Pathologie de l'encéphale; Maladie congénitale; Malformation; Pathologie de l'oeil; Pathologie du système nerveux central; Pathologie du système nerveux
ED :	Aicardi syndrome; Medical screening; Screening; Copy number; Human; Patient; High resolution; X-Chromosome
EG :	Cerebral disorder; Congenital disease; Malformation; Eye disease; Central nervous system disease; Nervous system diseases
SD :	Parálisis cerebral infantil crónica Aicardi; Descubrimiento; Cernido; Número copia; Hombre; Enfermo; Alta resolucion; Cromosoma X
LO :	INIST-6091G.354000160898570070
ID :	08-0041201

Links to Exploration step

Pascal:08-0041201

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH</title>
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<author><name sortKey="Gregoire, Marie Jose" sort="Gregoire, Marie Jose" uniqKey="Gregoire M" first="Marie-José" last="Gregoire">Marie-José Gregoire</name>
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<s2>54511 Vandoeuvre-les-Nancy</s2>
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<author><name sortKey="Devignes, Marie Dominique" sort="Devignes, Marie Dominique" uniqKey="Devignes M" first="Marie-Dominique" last="Devignes">Marie-Dominique Devignes</name>
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<author><name sortKey="Schaff, Jean Luc" sort="Schaff, Jean Luc" uniqKey="Schaff J" first="Jean-Luc" last="Schaff">Jean-Luc Schaff</name>
<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, CHU Nancy</s1>
<s3>FRA</s3>
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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="Nemos, Christophe" sort="Nemos, Christophe" uniqKey="Nemos C" first="Christophe" last="Nemos">Christophe Nemos</name>
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<author><name sortKey="Mcgregor, John Louis" sort="Mcgregor, John Louis" uniqKey="Mcgregor J" first="John Louis" last="Mcgregor">John Louis Mcgregor</name>
<affiliation><inist:fA14 i1="04"><s1>INSERM Unité 689, Hôpital Lariboisière</s1>
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<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>
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<ET>Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH</ET>
<AU>YILMAZ (Saliha); FONTAINE (Hervé); BROCHET (Karène); GREGOIRE (Marie-José); DEVIGNES (Marie-Dominique); SCHAFF (Jean-Luc); PHILIPPE (Christophe); NEMOS (Christophe); MCGREGOR (John Louis); JONVEAUX (Philippe)</AU>
<AF>Laboratoire de génétique, EA 4002-1FR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan/54511 Vandoeuvre-les-Nancy/France (1 aut., 2 aut., 3 aut., 4 aut., 7 aut., 8 aut., 10 aut.); CNRS-UMR 7503, LORIA/54506 Vandoeuvre-les-Nancy/France (5 aut.); Service de Neurologie, CHU Nancy/France (6 aut.); INSERM Unité 689, Hôpital Lariboisière/Paris/France (9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
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<EA>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.</EA>
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<EG>Cerebral disorder; Congenital disease; Malformation; Eye disease; Central nervous system disease; Nervous system diseases</EG>
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Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH

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