Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications / M. A. GILLENTINE in Journal of Autism and Developmental Disorders, 47-3 (March 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.563-563 Titre : Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications Type de document : Texte imprimé et/ou numérique Auteurs : M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur Article en page(s) : p.563-563 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-017-3047-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications [Texte imprimé et/ou numérique] / M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur . - p.563-563. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.563-563 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-017-3047-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

Known and Possible Roles of Epigenetics in Autism / Richard PERSON

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Known and Possible Roles of Epigenetics in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Richard PERSON, Auteur ; Xinna ZHANG, Auteur ; Soeun KIM, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur Année de publication : 2011 Importance : p.737-755 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 in Autism Spectrum Disorders / David G. AMARAL Known and Possible Roles of Epigenetics in Autism [Texte imprimé et/ou numérique] / Richard PERSON, Auteur ; Xinna ZHANG, Auteur ; Soeun KIM, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur . - 2011 . - p.737-755. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 / Pauline CHASTE in Autism Research, 7-3 (June 2014)  

Public ISBD [article]  inAutism Research > 7-3 (June 2014) . - p.355-362 Titre : Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur ; Stephan J. SANDERS, Auteur ; Kommu N. MOHAN, Auteur ; Lambertus KLEI, Auteur ; Youeun SONG, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy WILLSEY, Auteur ; Daniel MORENO-DE-LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Christa Lese MARTIN, Auteur ; Bernie DEVLIN, Auteur ; Arthur L. BEAUDET, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur Article en page(s) : p.355-362 Langues : Anglais (eng) Mots-clés : 15q11.2  deletion  duplication  penetrance  autism Index. décimale : PER Périodiques Résumé : The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between BP1-BP2 CNVs and autism accumulates, the magnitude of the effect of BP1-BP2 CNVs remains elusive, posing a great challenge to recurrence-risk counseling. To gain further insight into their pathogenicity for ASD, we estimated the penetrance of the BP1-BP2 CNVs for ASD as well as their effects on ASD-related phenotypes in a well-characterized ASD sample (n?=?2525 families). Transmission disequilibrium test revealed significant preferential transmission only for the duplicated chromosome in probands (20T:9NT). The penetrance of the BP1-BP2 CNVs for ASD was low, conferring additional risks of 0.3% (deletion) and 0.8% (duplication). Stepwise regression analyses suggest a greater effect of the CNVs on ASD-related phenotype in males and when maternally inherited. Taken together, the results are consistent with BP1-BP2 CNVs as risk factors for autism. However, their effect is modest, more akin to that seen for common variants. To be consistent with the current American College of Medical Genetics guidelines for interpretation of postnatal CNV, the BP1-BP2 deletion and duplication CNVs would probably best be classified as variants of uncertain significance (VOUS): they appear to have an impact on risk, but one so modest that these CNVs do not merit pathogenic status. Autism Res 2014, 7: 355–362. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1378 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235 [article] Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur ; Stephan J. SANDERS, Auteur ; Kommu N. MOHAN, Auteur ; Lambertus KLEI, Auteur ; Youeun SONG, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy WILLSEY, Auteur ; Daniel MORENO-DE-LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Christa Lese MARTIN, Auteur ; Bernie DEVLIN, Auteur ; Arthur L. BEAUDET, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur . - p.355-362. Langues : Anglais (eng) in Autism Research > 7-3 (June 2014) . - p.355-362 Mots-clés : 15q11.2  deletion  duplication  penetrance  autism Index. décimale : PER Périodiques Résumé : The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between BP1-BP2 CNVs and autism accumulates, the magnitude of the effect of BP1-BP2 CNVs remains elusive, posing a great challenge to recurrence-risk counseling. To gain further insight into their pathogenicity for ASD, we estimated the penetrance of the BP1-BP2 CNVs for ASD as well as their effects on ASD-related phenotypes in a well-characterized ASD sample (n?=?2525 families). Transmission disequilibrium test revealed significant preferential transmission only for the duplicated chromosome in probands (20T:9NT). The penetrance of the BP1-BP2 CNVs for ASD was low, conferring additional risks of 0.3% (deletion) and 0.8% (duplication). Stepwise regression analyses suggest a greater effect of the CNVs on ASD-related phenotype in males and when maternally inherited. Taken together, the results are consistent with BP1-BP2 CNVs as risk factors for autism. However, their effect is modest, more akin to that seen for common variants. To be consistent with the current American College of Medical Genetics guidelines for interpretation of postnatal CNV, the BP1-BP2 deletion and duplication CNVs would probably best be classified as variants of uncertain significance (VOUS): they appear to have an impact on risk, but one so modest that these CNVs do not merit pathogenic status. Autism Res 2014, 7: 355–362. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1378 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications / M. A. GILLENTINE in Journal of Autism and Developmental Disorders, 47-3 (March 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.549-562 Titre : The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications Type de document : Texte imprimé et/ou numérique Auteurs : M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur Article en page(s) : p.549-562 Langues : Anglais (eng) Mots-clés : 15q13.3 microduplication  CHRNA7  Neurodevelopment  Behavior  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals. En ligne : http://dx.doi.org/10.1007/s10803-016-2961-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications [Texte imprimé et/ou numérique] / M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur . - p.549-562. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.549-562 Mots-clés : 15q13.3 microduplication  CHRNA7  Neurodevelopment  Behavior  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals. En ligne : http://dx.doi.org/10.1007/s10803-016-2961-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations / Robin P. GOIN-KOCHEL in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.98-108 Titre : The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations Type de document : Texte imprimé et/ou numérique Auteurs : Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Trilochan SAHOO, Auteur ; Anne E. PORTER, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur Année de publication : 2009 Article en page(s) : p.98-108 Langues : Anglais (eng) Mots-clés : epigenetics genetics regression clinical-psychology Index. décimale : PER Périodiques Résumé : New evidence suggests that autism may be associated with (a) varied behavioral responses to folate therapy and (b) metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesized that children with autism who are homozygous for the MTHFR 677 T allele (TT) and, to a lesser extent those with the CT variant, would exhibit more behavioral problems and/or more severe problematic behaviors than homozygous wild-type (CC) individuals because of difficulties in effectively converting 5,10-MTHF to 5-MTHF. Data from the Autism Genetic Resource Exchange (AGRE) collection were analyzed for all children who met strict criteria for autism per the Autism Diagnostic Interview - Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) and who had been genotyped for the 677 C to T MTHFR polymorphism (n=147). Chi-square tests, logistic regression, and one-way ANOVAs were used to determine whether differences existed among MTHFR genotypes for specific behaviors on the ADI-R and indices for level of functioning. Exploratory results indicated four behaviors from the ADI-R that were more common and problematic (95% CI) among those with at least one copy of the T allele as compared to homozygous wild-type individuals: direct gaze, current complex body movements, a history of self-injurious behavior, and current overactivity (ORs=2.72, 2.33, 2.12, 2.47, respectively). No differences existed among genotypes for level of functioning as measured with the Peabody Picture Vocabulary Test - Third Edition, Ravens Colored Progressive Matrices, or the Vineland Adaptive Behavior Scales. Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism. En ligne : http://dx.doi.org/10.1002/aur.70 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations [Texte imprimé et/ou numérique] / Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Trilochan SAHOO, Auteur ; Anne E. PORTER, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur . - 2009 . - p.98-108. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.98-108 Mots-clés : epigenetics genetics regression clinical-psychology Index. décimale : PER Périodiques Résumé : New evidence suggests that autism may be associated with (a) varied behavioral responses to folate therapy and (b) metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesized that children with autism who are homozygous for the MTHFR 677 T allele (TT) and, to a lesser extent those with the CT variant, would exhibit more behavioral problems and/or more severe problematic behaviors than homozygous wild-type (CC) individuals because of difficulties in effectively converting 5,10-MTHF to 5-MTHF. Data from the Autism Genetic Resource Exchange (AGRE) collection were analyzed for all children who met strict criteria for autism per the Autism Diagnostic Interview - Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) and who had been genotyped for the 677 C to T MTHFR polymorphism (n=147). Chi-square tests, logistic regression, and one-way ANOVAs were used to determine whether differences existed among MTHFR genotypes for specific behaviors on the ADI-R and indices for level of functioning. Exploratory results indicated four behaviors from the ADI-R that were more common and problematic (95% CI) among those with at least one copy of the T allele as compared to homozygous wild-type individuals: direct gaze, current complex body movements, a history of self-injurious behavior, and current overactivity (ORs=2.72, 2.33, 2.12, 2.47, respectively). No differences existed among genotypes for level of functioning as measured with the Peabody Picture Vocabulary Test - Third Edition, Ravens Colored Progressive Matrices, or the Vineland Adaptive Behavior Scales. Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism. En ligne : http://dx.doi.org/10.1002/aur.70 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

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