Copy number variation in Han Chinese individuals with autism spectrum disorder / MatthewJ GAZZELLONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34 Titre : Copy number variation in Han Chinese individuals with autism spectrum disorder Type de document : texte imprimé Auteurs : MatthewJ GAZZELLONE, Auteur ; Xue ZHOU, Auteur ; Anath C. LIONEL, Auteur ; Mohammed UDDIN, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Shuang LIANG, Auteur ; Caihong SUN, Auteur ; Jing WANG, Auteur ; Mingyang ZOU, Auteur ; Kristiina TAMMIMIES, Auteur ; Susan WALKER, Auteur ; Thanuja SELVANAYAGAM, Auteur ; John WEI, Auteur ; Ziqi WANG, Auteur ; Lijie WU, Auteur ; Stephen SCHERER, Auteur Article en page(s) : p.34 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Han Chinese  Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Copy number variation in Han Chinese individuals with autism spectrum disorder [texte imprimé] / MatthewJ GAZZELLONE, Auteur ; Xue ZHOU, Auteur ; Anath C. LIONEL, Auteur ; Mohammed UDDIN, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Shuang LIANG, Auteur ; Caihong SUN, Auteur ; Jing WANG, Auteur ; Mingyang ZOU, Auteur ; Kristiina TAMMIMIES, Auteur ; Susan WALKER, Auteur ; Thanuja SELVANAYAGAM, Auteur ; John WEI, Auteur ; Ziqi WANG, Auteur ; Lijie WU, Auteur ; Stephen SCHERER, Auteur . - p.34. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34 Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Han Chinese  Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

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 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] / 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 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] / 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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