Copy Number Variation in Autism Spectrum Disorders / Christian R. MARSHALL

Public ISBD in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Titre : Copy Number Variation in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Christian R. MARSHALL, Auteur ; Anath C. LIONEL, Auteur ; Stephen SCHERER, Auteur Année de publication : 2013 Importance : p.145-154 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : It is well established that a significant proportion of the risk underlying autism spectrum disorders (ASD) is genetic. The rapid advancement of high-resolution genome scanning technologies has led to several reproducible findings that are beginning to uncover the genetic architecture of ASD. An identifiable genetic etiology exists in approximately 15% of individuals with ASD, with a large proportion of this currently attributable to copy number variations (CNVs). A recent focus of research has been to identify rare (lt; 0.1% frequency), but apparently highly penetrant, CNVs for candidate ASD-risk gene discovery. This strategy has yielded identification of rare de novo or inherited CNVs in upwards of 10% of cases, implicating hundreds of risk genes in ASD, many of which are involved in synaptic function. The discovery of these highly penetrant susceptibility genes has immediate impact on genetic diagnostic testing while also uncovering pathways amenable for therapeutic intervention. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Copy Number Variation in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Christian R. MARSHALL, Auteur ; Anath C. LIONEL, Auteur ; Stephen SCHERER, Auteur . - 2013 . - p.145-154. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : It is well established that a significant proportion of the risk underlying autism spectrum disorders (ASD) is genetic. The rapid advancement of high-resolution genome scanning technologies has led to several reproducible findings that are beginning to uncover the genetic architecture of ASD. An identifiable genetic etiology exists in approximately 15% of individuals with ASD, with a large proportion of this currently attributable to copy number variations (CNVs). A recent focus of research has been to identify rare (lt; 0.1% frequency), but apparently highly penetrant, CNVs for candidate ASD-risk gene discovery. This strategy has yielded identification of rare de novo or inherited CNVs in upwards of 10% of cases, implicating hundreds of risk genes in ASD, many of which are involved in synaptic function. The discovery of these highly penetrant susceptibility genes has immediate impact on genetic diagnostic testing while also uncovering pathways amenable for therapeutic intervention. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

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Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program / Richard F. WINTLE in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.314 Titre : Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program Type de document : Texte imprimé et/ou numérique Auteurs : Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur Année de publication : 2011 Article en page(s) : p.314 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=142 [article] Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program [Texte imprimé et/ou numérique] / Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur . - 2011 . - p.314. Langues : Anglais (eng) in Autism Research > 4-4 (August 2011) . - p.314 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=142

A genotype resource for postmortem brain samples from the Autism Tissue Program / Richard F. WINTLE in Autism Research, 4-2 (April 2011)  

Public ISBD [article]  inAutism Research > 4-2 (April 2011) . - p.89-97 Titre : A genotype resource for postmortem brain samples from the Autism Tissue Program Type de document : Texte imprimé et/ou numérique Auteurs : Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur Année de publication : 2011 Article en page(s) : p.89-97 Langues : Anglais (eng) Mots-clés : autism  autism spectrum disorder  brain  brodmann area 19  copy number variation  genome-wide  microarray  single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized postmortem brain tissues. Researchers access these tissues through a peer-reviewed, project-based approval process, and obtain related clinical information from a secure, online informatics portal. However, few of these samples have DNA banked from other sources (such as a blood sample from the same individual), hindering genotype–phenotype correlation and interpretation of gene expression data derived from the banked brain tissue. Here, we describe an initiative to extract DNA from Brodmann Area 19, and genotype these samples using both the Affymetrix Genome-Wide Human SNP Array 6.0 and the Illumina Human1M-Duo DNA Analysis BeadChip genome-wide microarray technologies. We additionally verify reported gender, and infer ethnic background from the single nucleotide polymorphism data. We have also used a rigorous, multiple algorithm approach to identify genomic copy number variation (CNV) from these array data. Following an initial proof of principle study using two samples, 52 experimental samples, consisting of 27 subjects with confirmed or suspected autism and related disorders, 5 subjects with cytogenetically visible duplications of 15q, 2 with epilepsy and 18 age-matched normal controls were processed, yielding high-quality genotype data in all cases. The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community. En ligne : http://dx.doi.org/10.1002/aur.173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] A genotype resource for postmortem brain samples from the Autism Tissue Program [Texte imprimé et/ou numérique] / Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur . - 2011 . - p.89-97. Langues : Anglais (eng) in Autism Research > 4-2 (April 2011) . - p.89-97 Mots-clés : autism  autism spectrum disorder  brain  brodmann area 19  copy number variation  genome-wide  microarray  single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized postmortem brain tissues. Researchers access these tissues through a peer-reviewed, project-based approval process, and obtain related clinical information from a secure, online informatics portal. However, few of these samples have DNA banked from other sources (such as a blood sample from the same individual), hindering genotype–phenotype correlation and interpretation of gene expression data derived from the banked brain tissue. Here, we describe an initiative to extract DNA from Brodmann Area 19, and genotype these samples using both the Affymetrix Genome-Wide Human SNP Array 6.0 and the Illumina Human1M-Duo DNA Analysis BeadChip genome-wide microarray technologies. We additionally verify reported gender, and infer ethnic background from the single nucleotide polymorphism data. We have also used a rigorous, multiple algorithm approach to identify genomic copy number variation (CNV) from these array data. Following an initial proof of principle study using two samples, 52 experimental samples, consisting of 27 subjects with confirmed or suspected autism and related disorders, 5 subjects with cytogenetically visible duplications of 15q, 2 with epilepsy and 18 age-matched normal controls were processed, yielding high-quality genotype data in all cases. The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community. En ligne : http://dx.doi.org/10.1002/aur.173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

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