Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
3 recherche sur le mot-clé 'Copy number variations'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder / Nagwa A. MEGUID in Research in Autism Spectrum Disorders, 75 (July 2020)
[article]
Titre : Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Nagwa A. MEGUID, Auteur ; Ola M. EID, Auteur ; Mona REDA, Auteur ; Dina Y. ELALFY, Auteur ; Fatma HUSSEIN, Auteur Article en page(s) : p.101558 Langues : Anglais (eng) Mots-clés : Autism Copy number variations SHANK3 Sensory profiles MLPA Index. décimale : PER Périodiques Résumé : Background Current estimates indicate that >80 % of children with autism spectrum disorder (ASD) exhibit concomitant sensory processing problems and hyper- or hypo-reactivity to sensory input. These are now included as diagnostic criteria for ASD in the Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition. Chromosomal rearrangements, copy number variations (CNVs), and coding sequence variants involving >100 genes have been identified in patients with ASD. Studying the CNVs of one such gene, SHANK3, and the associated phenotype in patients with ASD could provide insights that will guide future ASD treatments and interventions. Objective To assess SHANK3 CNVs in children with ASD and investigate their sensory processing patterns using the Short Sensory Profile (SSP). Subjects and methods Forty children with ASD were assessed using the Autism Diagnostic Interview-Revised. SSP was used to evaluate atypical sensory behavior, e.g., hyper- or hypo-reactivity to sensory input or unusual sensory interests. SHANK3 CNVs were assessed in these children using Multiplex Ligation-dependent Probe Amplification. Results Of the 40 cases, 77.5 % showed sensory reactivity symptoms. The greatest difference from normality was observed in the under-responsive/seeks sensation domain, followed by the tactile sensitivity domain, whereas hypo-activity (low-energy/weak domain) was closest to normal. The sensory reactivity symptoms were significantly correlated with the severity of ASD. However, only three of the 40 cases had de novo duplications at 22q13.33. The duplications included SHANK3 in two of the cases and only the distal flanking region of SHANK3 in the third case. All three duplication cases also showed symptoms associated with the low-energy/weak domain. Conclusion We found that children with ASD exhibited sensory processing problems. The SHANK3 copy number gains found demonstrate the gene dosage effect of SHANK3 in ASD pathogenesis. This study adds to the growing understanding of 22q13 duplications that include SHANK3. En ligne : https://doi.org/10.1016/j.rasd.2020.101558 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=426
in Research in Autism Spectrum Disorders > 75 (July 2020) . - p.101558[article] Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder [Texte imprimé et/ou numérique] / Nagwa A. MEGUID, Auteur ; Ola M. EID, Auteur ; Mona REDA, Auteur ; Dina Y. ELALFY, Auteur ; Fatma HUSSEIN, Auteur . - p.101558.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 75 (July 2020) . - p.101558
Mots-clés : Autism Copy number variations SHANK3 Sensory profiles MLPA Index. décimale : PER Périodiques Résumé : Background Current estimates indicate that >80 % of children with autism spectrum disorder (ASD) exhibit concomitant sensory processing problems and hyper- or hypo-reactivity to sensory input. These are now included as diagnostic criteria for ASD in the Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition. Chromosomal rearrangements, copy number variations (CNVs), and coding sequence variants involving >100 genes have been identified in patients with ASD. Studying the CNVs of one such gene, SHANK3, and the associated phenotype in patients with ASD could provide insights that will guide future ASD treatments and interventions. Objective To assess SHANK3 CNVs in children with ASD and investigate their sensory processing patterns using the Short Sensory Profile (SSP). Subjects and methods Forty children with ASD were assessed using the Autism Diagnostic Interview-Revised. SSP was used to evaluate atypical sensory behavior, e.g., hyper- or hypo-reactivity to sensory input or unusual sensory interests. SHANK3 CNVs were assessed in these children using Multiplex Ligation-dependent Probe Amplification. Results Of the 40 cases, 77.5 % showed sensory reactivity symptoms. The greatest difference from normality was observed in the under-responsive/seeks sensation domain, followed by the tactile sensitivity domain, whereas hypo-activity (low-energy/weak domain) was closest to normal. The sensory reactivity symptoms were significantly correlated with the severity of ASD. However, only three of the 40 cases had de novo duplications at 22q13.33. The duplications included SHANK3 in two of the cases and only the distal flanking region of SHANK3 in the third case. All three duplication cases also showed symptoms associated with the low-energy/weak domain. Conclusion We found that children with ASD exhibited sensory processing problems. The SHANK3 copy number gains found demonstrate the gene dosage effect of SHANK3 in ASD pathogenesis. This study adds to the growing understanding of 22q13 duplications that include SHANK3. En ligne : https://doi.org/10.1016/j.rasd.2020.101558 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=426 The landscape of copy number variations in Finnish families with autism spectrum disorders / Chakravarthi KANDURI in Autism Research, 9-1 (January 2016)
[article]
Titre : The landscape of copy number variations in Finnish families with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Chakravarthi KANDURI, Auteur ; Katri KANTOJARVI, Auteur ; Paula M. SALO, Auteur ; Raija VANHALA, Auteur ; Gemma BUCK, Auteur ; Christine BLANCHER, Auteur ; Harri LÄHDESMÄKI, Auteur ; Irma JARVELA, Auteur Article en page(s) : p.9-16 Langues : Anglais (eng) Mots-clés : autism spectrum disorders copy number variations Finnish population genome wide SNP arrays Index. décimale : PER Périodiques Résumé : Rare de novo and inherited copy number variations (CNVs) have been implicated in autism spectrum disorder (ASD) risk. However, the genetic underpinnings of ASD remain unknown in more than 80% of cases. Therefore, identification of novel candidate genes and corroboration of known candidate genes may broaden the horizons of determining genetic risk alleles, and subsequent development of diagnostic testing. Here, using genotyping arrays, we characterized the genetic architecture of rare CNVs (<1% frequency) in a Finnish case–control dataset. Unsurprisingly, ASD cases harbored a significant excess of rare, large (>1 Mb) CNVs and rare, exonic CNVs. The exonic rare de novo CNV rate (?22.5%) seemed higher compared to previous reports. We identified several CNVs in well-known ASD regions including GSTM1-5, DISC1, FHIT, RBFOX1, CHRNA7, 15q11.2, 15q13.2-q13.3, 17q12, and 22q11.21. Additionally, several novel candidate genes (BDKRB1, BDKRB2, AP2M1, SPTA1, PTH1R, CYP2E1, PLCD3, F2RL1, UQCRC2, LILRB3, RPS9, and COL11A2) were identified through gene prioritization. The majority of these genes belong to neuroactive ligand–receptor interaction pathways, and calcium signaling pathways, thus suggesting that a subset of these novel candidate genes may contribute to ASD risk. Furthermore, several metabolic pathways like caffeine metabolism, drug metabolism, retinol metabolism, and calcium-signaling pathway were found to be affected by the rare exonic ASD CNVs. Additionally, biological processes such as bradykinin receptor activity, endoderm formation and development, and oxidoreductase activity were enriched among the rare exonic ASD CNVs. Overall, our findings may add data about new genes and pathways that contribute to the genetic architecture of ASD. En ligne : http://dx.doi.org/10.1002/aur.1502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282
in Autism Research > 9-1 (January 2016) . - p.9-16[article] The landscape of copy number variations in Finnish families with autism spectrum disorders [Texte imprimé et/ou numérique] / Chakravarthi KANDURI, Auteur ; Katri KANTOJARVI, Auteur ; Paula M. SALO, Auteur ; Raija VANHALA, Auteur ; Gemma BUCK, Auteur ; Christine BLANCHER, Auteur ; Harri LÄHDESMÄKI, Auteur ; Irma JARVELA, Auteur . - p.9-16.
Langues : Anglais (eng)
in Autism Research > 9-1 (January 2016) . - p.9-16
Mots-clés : autism spectrum disorders copy number variations Finnish population genome wide SNP arrays Index. décimale : PER Périodiques Résumé : Rare de novo and inherited copy number variations (CNVs) have been implicated in autism spectrum disorder (ASD) risk. However, the genetic underpinnings of ASD remain unknown in more than 80% of cases. Therefore, identification of novel candidate genes and corroboration of known candidate genes may broaden the horizons of determining genetic risk alleles, and subsequent development of diagnostic testing. Here, using genotyping arrays, we characterized the genetic architecture of rare CNVs (<1% frequency) in a Finnish case–control dataset. Unsurprisingly, ASD cases harbored a significant excess of rare, large (>1 Mb) CNVs and rare, exonic CNVs. The exonic rare de novo CNV rate (?22.5%) seemed higher compared to previous reports. We identified several CNVs in well-known ASD regions including GSTM1-5, DISC1, FHIT, RBFOX1, CHRNA7, 15q11.2, 15q13.2-q13.3, 17q12, and 22q11.21. Additionally, several novel candidate genes (BDKRB1, BDKRB2, AP2M1, SPTA1, PTH1R, CYP2E1, PLCD3, F2RL1, UQCRC2, LILRB3, RPS9, and COL11A2) were identified through gene prioritization. The majority of these genes belong to neuroactive ligand–receptor interaction pathways, and calcium signaling pathways, thus suggesting that a subset of these novel candidate genes may contribute to ASD risk. Furthermore, several metabolic pathways like caffeine metabolism, drug metabolism, retinol metabolism, and calcium-signaling pathway were found to be affected by the rare exonic ASD CNVs. Additionally, biological processes such as bradykinin receptor activity, endoderm formation and development, and oxidoreductase activity were enriched among the rare exonic ASD CNVs. Overall, our findings may add data about new genes and pathways that contribute to the genetic architecture of ASD. En ligne : http://dx.doi.org/10.1002/aur.1502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability / Yiping SHEN
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Yiping SHEN, Auteur ; Xiaohong GONG, Auteur Année de publication : 2016 Importance : p.3-12 Langues : Anglais (eng) Mots-clés : Autozygosity mapping Balanced translocation breakpoint mapping Candidate gene approach Copy number variations Exome sequencing Linkage analysis Next-generation sequencing Positional mapping Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability [Texte imprimé et/ou numérique] / Yiping SHEN, Auteur ; Xiaohong GONG, Auteur . - 2016 . - p.3-12.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autozygosity mapping Balanced translocation breakpoint mapping Candidate gene approach Copy number variations Exome sequencing Linkage analysis Next-generation sequencing Positional mapping Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire