Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
3 recherche sur le mot-clé 'copy number variation (CNV)'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs / M. SCHUMANN in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
[article]
Titre : Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs Type de document : Texte imprimé et/ou numérique Auteurs : M. SCHUMANN, Auteur ; A. HOFMANN, Auteur ; S. K. KRUTZKE, Auteur ; A. C. HILGER, Auteur ; F. MARSCH, Auteur ; D. STIENEN, Auteur ; U. GEMBRUCH, Auteur ; M. LUDWIG, Auteur ; W. M. MERZ, Auteur ; H. REUTTER, Auteur Article en page(s) : p.11 Langues : Anglais (eng) Mots-clés : Array-based karyotyping Brain malformation Copy number variation (CNV) De novo occurrence Index. décimale : PER Périodiques Résumé : BACKGROUND: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of terminated pregnancies with prenatally detected isolated brain malformations. METHODS: Array-based molecular karyotyping was performed in a cohort of 35 terminated fetuses with isolated CNS malformations. Identified putative disease-causing CNVs were confirmed using quantitative polymerase chain reaction or multiplex ligation-dependent probe amplification. RESULTS: Based on their de novo occurrence and/or their established association with congenital brain malformations, we detected five disease-causing CNVs in four fetuses involving chromosomal regions 6p25.1-6p25.3 (FOXC1), 6q27, 16p12.3, Xp22.2-Xp22.32 (MID1), and Xp22.32-Xp22.33. Furthermore, we detected a probably disease-causing CNV involving chromosomal region 3p26.3 in one fetus, and in addition, we detected 12 CNVs in nine fetuses of unknown clinical significance. All CNVs except for two were absent in 1307 healthy in-house controls (frequency <0.0008). Each of the two CNVs present in in-house controls was present only once (frequency = 0.0008). Furthermore, our data suggests the involvement of CNTN6 and KLHL15 in the etiology of agenesis of the corpus callosum, the involvement of RASD1 and PTPRD in Dandy-Walker malformation, and the involvement of ERMARD in ventriculomegaly. CONCLUSIONS: Our study suggests that CNVs play an important role in the etiology of isolated brain malformations. En ligne : http://dx.doi.org/10.1186/s11689-016-9144-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.11[article] Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs [Texte imprimé et/ou numérique] / M. SCHUMANN, Auteur ; A. HOFMANN, Auteur ; S. K. KRUTZKE, Auteur ; A. C. HILGER, Auteur ; F. MARSCH, Auteur ; D. STIENEN, Auteur ; U. GEMBRUCH, Auteur ; M. LUDWIG, Auteur ; W. M. MERZ, Auteur ; H. REUTTER, Auteur . - p.11.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.11
Mots-clés : Array-based karyotyping Brain malformation Copy number variation (CNV) De novo occurrence Index. décimale : PER Périodiques Résumé : BACKGROUND: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of terminated pregnancies with prenatally detected isolated brain malformations. METHODS: Array-based molecular karyotyping was performed in a cohort of 35 terminated fetuses with isolated CNS malformations. Identified putative disease-causing CNVs were confirmed using quantitative polymerase chain reaction or multiplex ligation-dependent probe amplification. RESULTS: Based on their de novo occurrence and/or their established association with congenital brain malformations, we detected five disease-causing CNVs in four fetuses involving chromosomal regions 6p25.1-6p25.3 (FOXC1), 6q27, 16p12.3, Xp22.2-Xp22.32 (MID1), and Xp22.32-Xp22.33. Furthermore, we detected a probably disease-causing CNV involving chromosomal region 3p26.3 in one fetus, and in addition, we detected 12 CNVs in nine fetuses of unknown clinical significance. All CNVs except for two were absent in 1307 healthy in-house controls (frequency <0.0008). Each of the two CNVs present in in-house controls was present only once (frequency = 0.0008). Furthermore, our data suggests the involvement of CNTN6 and KLHL15 in the etiology of agenesis of the corpus callosum, the involvement of RASD1 and PTPRD in Dandy-Walker malformation, and the involvement of ERMARD in ventriculomegaly. CONCLUSIONS: Our study suggests that CNVs play an important role in the etiology of isolated brain malformations. En ligne : http://dx.doi.org/10.1186/s11689-016-9144-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications / C. M. HUDAC in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications Type de document : Texte imprimé et/ou numérique Auteurs : C. M. HUDAC, Auteur ; A. KRESSE, Auteur ; Benjamin AARONSON, Auteur ; Trent D. DESCHAMPS, Auteur ; S. J. WEBB, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : 16p11.2 Autism spectrum disorder (ASD) Copy number variation (CNV) Electroencephalogram (EEG) Molecular subtyping Mu attenuation Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little is known about the social brain phenotype of 16p11.2 CNV and how this phenotype is related to the social impairments associated with CNVs at this locus. The aim of this preliminary study was to use molecular subtyping to establish the social brain phenotype of individuals with 16p11.2 CNV and how these patterns relate to typical development and ASD. METHODS: We evaluated the social brain phenotype as expressed by mu attenuation in 48 children and adults characterized as duplication carriers (n = 12), deletion carriers (n = 12), individuals with idiopathic ASD (n = 8), and neurotypical controls (n = 16). Participants watched videos containing social and nonsocial motion during electroencephalogram (EEG) acquisition. RESULTS: Overall, only the typical group exhibited predicted patterns of mu modulation to social information (e.g., greater mu attenuation for social than nonsocial motion). Both 16p11.2 CNV groups exhibited more mu attenuation for nonsocial than social motion. The ASD group did not discriminate between conditions and demonstrated less mu attenuation compared to the typical and duplication carriers. Single-trial analysis indicated that mu attenuation decreased over time more rapidly for 16p11.2 CNV groups than the typical group. The duplication group did not diverge from typical patterns of mu attenuation until after initial exposure. CONCLUSIONS: These results indicate atypical but unique patterns of mu attenuation for deletion and duplication carriers, highlighting the need to continue characterizing the social brain phenotype associated with 16p11.2 CNVs. En ligne : http://dx.doi.org/10.1186/s11689-015-9118-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.25[article] Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications [Texte imprimé et/ou numérique] / C. M. HUDAC, Auteur ; A. KRESSE, Auteur ; Benjamin AARONSON, Auteur ; Trent D. DESCHAMPS, Auteur ; S. J. WEBB, Auteur ; Raphael BERNIER, Auteur . - p.25.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.25
Mots-clés : 16p11.2 Autism spectrum disorder (ASD) Copy number variation (CNV) Electroencephalogram (EEG) Molecular subtyping Mu attenuation Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little is known about the social brain phenotype of 16p11.2 CNV and how this phenotype is related to the social impairments associated with CNVs at this locus. The aim of this preliminary study was to use molecular subtyping to establish the social brain phenotype of individuals with 16p11.2 CNV and how these patterns relate to typical development and ASD. METHODS: We evaluated the social brain phenotype as expressed by mu attenuation in 48 children and adults characterized as duplication carriers (n = 12), deletion carriers (n = 12), individuals with idiopathic ASD (n = 8), and neurotypical controls (n = 16). Participants watched videos containing social and nonsocial motion during electroencephalogram (EEG) acquisition. RESULTS: Overall, only the typical group exhibited predicted patterns of mu modulation to social information (e.g., greater mu attenuation for social than nonsocial motion). Both 16p11.2 CNV groups exhibited more mu attenuation for nonsocial than social motion. The ASD group did not discriminate between conditions and demonstrated less mu attenuation compared to the typical and duplication carriers. Single-trial analysis indicated that mu attenuation decreased over time more rapidly for 16p11.2 CNV groups than the typical group. The duplication group did not diverge from typical patterns of mu attenuation until after initial exposure. CONCLUSIONS: These results indicate atypical but unique patterns of mu attenuation for deletion and duplication carriers, highlighting the need to continue characterizing the social brain phenotype associated with 16p11.2 CNVs. En ligne : http://dx.doi.org/10.1186/s11689-015-9118-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1 / Holly N. CUKIER in Autism Research, 5-6 (December 2012)