Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region / Dorota A. KWASNICKA-CRAWFORD in Journal of Autism and Developmental Disorders, 37-4 (April 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.694-702 Titre : Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region Type de document : Texte imprimé et/ou numérique Auteurs : Dorota A. KWASNICKA-CRAWFORD, Auteur ; Wendy ROBERTS, Auteur ; Stephen SCHERER, Auteur Année de publication : 2007 Article en page(s) : p.694-702 Langues : Anglais (eng) Mots-clés : Autistic-disorder Chromosomal-anomalies Prader-Willi/Angelman-region small-supernumerary-chromosome Index. décimale : PER Périodiques Résumé : Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11–q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was designated de novo 47, XX, idic(15)(q13). Fluorescence in situ hybridization (FISH) and molecular analysis with 15q11–q13 markers revealed an additional copy of the region being of maternal origin. Duplication of the 15q11–q13 segment represents the most consistent known chromosomal abnormality reported in association with autism. This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism. En ligne : http://dx.doi.org/10.1007/s10803-006-0225-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=972 [article] Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region [Texte imprimé et/ou numérique] / Dorota A. KWASNICKA-CRAWFORD, Auteur ; Wendy ROBERTS, Auteur ; Stephen SCHERER, Auteur . - 2007 . - p.694-702. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.694-702 Mots-clés : Autistic-disorder Chromosomal-anomalies Prader-Willi/Angelman-region small-supernumerary-chromosome Index. décimale : PER Périodiques Résumé : Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11–q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was designated de novo 47, XX, idic(15)(q13). Fluorescence in situ hybridization (FISH) and molecular analysis with 15q11–q13 markers revealed an additional copy of the region being of maternal origin. Duplication of the 15q11–q13 segment represents the most consistent known chromosomal abnormality reported in association with autism. This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism. En ligne : http://dx.doi.org/10.1007/s10803-006-0225-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=972

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems / S. CHENIER in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.9 Titre : CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems Type de document : Texte imprimé et/ou numérique Auteurs : S. CHENIER, Auteur ; G. YOON, Auteur ; B. ARGIROPOULOS, Auteur ; J. LAUZON, Auteur ; R. LAFRAMBOISE, Auteur ; J. W. AHN, Auteur ; C. M. OGILVIE, Auteur ; A. C. LIONEL, Auteur ; C. R. MARSHALL, Auteur ; A. K. VAAGS, Auteur ; B. HASHEMI, Auteur ; K. BOISVERT, Auteur ; G. MATHONNET, Auteur ; F. TIHY, Auteur ; J. SO, Auteur ; Stephen SCHERER, Auteur ; E. LEMYRE, Auteur ; D. J. STAVROPOULOS, Auteur Article en page(s) : p.9 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Chd2  Developmental delay  Epilepsy  Learning disability Index. décimale : PER Périodiques Résumé : BACKGROUND: The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking. METHODS: We conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder. RESULTS: Detailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene. CONCLUSIONS: The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals. En ligne : http://dx.doi.org/10.1186/1866-1955-6-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems [Texte imprimé et/ou numérique] / S. CHENIER, Auteur ; G. YOON, Auteur ; B. ARGIROPOULOS, Auteur ; J. LAUZON, Auteur ; R. LAFRAMBOISE, Auteur ; J. W. AHN, Auteur ; C. M. OGILVIE, Auteur ; A. C. LIONEL, Auteur ; C. R. MARSHALL, Auteur ; A. K. VAAGS, Auteur ; B. HASHEMI, Auteur ; K. BOISVERT, Auteur ; G. MATHONNET, Auteur ; F. TIHY, Auteur ; J. SO, Auteur ; Stephen SCHERER, Auteur ; E. LEMYRE, Auteur ; D. J. STAVROPOULOS, Auteur . - p.9. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.9 Mots-clés : Autism spectrum disorder  Chd2  Developmental delay  Epilepsy  Learning disability Index. décimale : PER Périodiques Résumé : BACKGROUND: The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking. METHODS: We conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder. RESULTS: Detailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene. CONCLUSIONS: The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals. En ligne : http://dx.doi.org/10.1186/1866-1955-6-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

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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Copy number variation in Han Chinese individuals with autism spectrum disorder / M. J. 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 et/ou numérique Auteurs : M. J. GAZZELLONE, Auteur ; X. ZHOU, Auteur ; A. C. LIONEL, Auteur ; M. UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; C. SUN, Auteur ; J. WANG, Auteur ; M. ZOU, Auteur ; K. TAMMIMIES, Auteur ; S. WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; J. WEI, Auteur ; Z. WANG, Auteur ; L. 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 et/ou numérique] / M. J. GAZZELLONE, Auteur ; X. ZHOU, Auteur ; A. C. LIONEL, Auteur ; M. UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; C. SUN, Auteur ; J. WANG, Auteur ; M. ZOU, Auteur ; K. TAMMIMIES, Auteur ; S. WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; J. WEI, Auteur ; Z. WANG, Auteur ; L. 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

DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders / M. T. SIU in Journal of Autism and Developmental Disorders, 51-10 (October 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3610-3623 Titre : DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : M. T. SIU, Auteur ; S. J. GOODMAN, Auteur ; I. YELLAN, Auteur ; D. T. BUTCHER, Auteur ; M. JANGJOO, Auteur ; D. GRAFODATSKAYA, Auteur ; R. RAJENDRAM, Auteur ; Y. LOU, Auteur ; R. ZHANG, Auteur ; C. ZHAO, Auteur ; R. NICOLSON, Auteur ; S. GEORGIADES, Auteur ; P. SZATMARI, Auteur ; Stephen SCHERER, Auteur ; W. ROBERTS, Auteur ; Evdokia ANAGNOSTOU, Auteur ; R. WEKSBERG, Auteur Article en page(s) : p.3610-3623 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  Autism Spectrum Disorder/genetics  DNA Methylation  Female  Humans  Male  Obsessive-Compulsive Disorder  Oxytocin/metabolism  Receptors, Oxytocin/genetics  Adhd  Asd  Ocd  Oxtr Index. décimale : PER Périodiques Résumé : Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, OXTR, in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD) and obsessive compulsive (OCD) disorders. DNAm of OXTR was assessed for cohorts of ASD (blood), ADHD (saliva), OCD (saliva), which uncovered sex-specific DNAm differences compared to neurotypical, tissue-matched controls. Individuals with ASD or ADHD exhibiting extreme DNAm values had lower IQ and more social problems, respectively, than those with DNAm within normative ranges. This suggests that OXTR DNAm patterns are altered across NDDs and may be correlated with common clinical outcomes. En ligne : http://dx.doi.org/10.1007/s10803-020-04792-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / M. T. SIU, Auteur ; S. J. GOODMAN, Auteur ; I. YELLAN, Auteur ; D. T. BUTCHER, Auteur ; M. JANGJOO, Auteur ; D. GRAFODATSKAYA, Auteur ; R. RAJENDRAM, Auteur ; Y. LOU, Auteur ; R. ZHANG, Auteur ; C. ZHAO, Auteur ; R. NICOLSON, Auteur ; S. GEORGIADES, Auteur ; P. SZATMARI, Auteur ; Stephen SCHERER, Auteur ; W. ROBERTS, Auteur ; Evdokia ANAGNOSTOU, Auteur ; R. WEKSBERG, Auteur . - p.3610-3623. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3610-3623 Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  Autism Spectrum Disorder/genetics  DNA Methylation  Female  Humans  Male  Obsessive-Compulsive Disorder  Oxytocin/metabolism  Receptors, Oxytocin/genetics  Adhd  Asd  Ocd  Oxtr Index. décimale : PER Périodiques Résumé : Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, OXTR, in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD) and obsessive compulsive (OCD) disorders. DNAm of OXTR was assessed for cohorts of ASD (blood), ADHD (saliva), OCD (saliva), which uncovered sex-specific DNAm differences compared to neurotypical, tissue-matched controls. Individuals with ASD or ADHD exhibiting extreme DNAm values had lower IQ and more social problems, respectively, than those with DNAm within normative ranges. This suggests that OXTR DNAm patterns are altered across NDDs and may be correlated with common clinical outcomes. En ligne : http://dx.doi.org/10.1007/s10803-020-04792-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

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

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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 / Alistair T. PAGNAMENTA in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees / M. WOODBURY-SMITH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

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

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Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort / Eduarda Morgana DA SILVA MONTENEGRO in Autism Research, 13-2 (February 2020)  

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Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells / P. Joel ROSS in Molecular Autism, 11 (2020)  

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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly / M. WOODBURY-SMITH in Molecular Autism, 8 (2017)  

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Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism / V. J. VIELAND in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

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Parents’ Perspectives on Participating in Genetic Research in Autism / Magan TROTTIER in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders / G. COSTAIN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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