Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology / Anjene M. ADDINGTON in Journal of Child Psychology and Psychiatry, 53-5 (May 2012)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 53-5 (May 2012) . - p.510-518 Titre : Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology Type de document : Texte imprimé et/ou numérique Auteurs : Anjene M. ADDINGTON, Auteur ; Judith RAPOPORT, Auteur Année de publication : 2012 Article en page(s) : p.510-518 Langues : Anglais (eng) Mots-clés : Developmental psychopathology  genetics  copy number variantspre-natal diagnosis  nosology  prevention Index. décimale : PER Périodiques Résumé : It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette’s Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02478.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=154 [article] Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology [Texte imprimé et/ou numérique] / Anjene M. ADDINGTON, Auteur ; Judith RAPOPORT, Auteur . - 2012 . - p.510-518. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-5 (May 2012) . - p.510-518 Mots-clés : Developmental psychopathology  genetics  copy number variantspre-natal diagnosis  nosology  prevention Index. décimale : PER Périodiques Résumé : It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette’s Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02478.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=154

Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder / Jacquelyn R. IDOL in Journal of Autism and Developmental Disorders, 38-4 (April 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-4 (April 2008) . - p.668-677 Titre : Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jacquelyn R. IDOL, Auteur ; Judith RAPOPORT, Auteur ; Anjene M. ADDINGTON, Auteur ; Robert T. LONG, Auteur ; Eric D. GREEN, Auteur Année de publication : 2008 Article en page(s) : p.668-677 Langues : Anglais (eng) Mots-clés : Schizophrenia Autism Translocation Genetics Genome-analysis Cytogenetics Index. décimale : PER Périodiques Résumé : We characterized a t(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a ∼16-kb interval. A cosmid containing the translocation-associated 1:7 junction on der(1) was isolated and sequenced, revealing the positions on chromosomes 1 and 7, respectively, where the translocation occurred. PCR-based studies enabled the isolation and sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene on either chromosome appears to be disrupted by the translocation. We further found no evidence for copy-number differences in the genomic regions flanking the translocation junctions in the patient. Our efforts provide sequence-based information about a schizophrenia/autism-associated translocation, and may facilitate future studies investigating the genetic bases of these disorders. En ligne : http://dx.doi.org/10.1007/s10803-007-0435-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=340 [article] Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder [Texte imprimé et/ou numérique] / Jacquelyn R. IDOL, Auteur ; Judith RAPOPORT, Auteur ; Anjene M. ADDINGTON, Auteur ; Robert T. LONG, Auteur ; Eric D. GREEN, Auteur . - 2008 . - p.668-677. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-4 (April 2008) . - p.668-677 Mots-clés : Schizophrenia Autism Translocation Genetics Genome-analysis Cytogenetics Index. décimale : PER Périodiques Résumé : We characterized a t(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a ∼16-kb interval. A cosmid containing the translocation-associated 1:7 junction on der(1) was isolated and sequenced, revealing the positions on chromosomes 1 and 7, respectively, where the translocation occurred. PCR-based studies enabled the isolation and sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene on either chromosome appears to be disrupted by the translocation. We further found no evidence for copy-number differences in the genomic regions flanking the translocation junctions in the patient. Our efforts provide sequence-based information about a schizophrenia/autism-associated translocation, and may facilitate future studies investigating the genetic bases of these disorders. En ligne : http://dx.doi.org/10.1007/s10803-007-0435-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=340

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