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Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) / Eloisa S. MOREIRA in Research in Autism Spectrum Disorders, 23 (March 2016)
[article]
Titre : Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) Type de document : Texte imprimé et/ou numérique Auteurs : Eloisa S. MOREIRA, Auteur ; Isabela M. W. SILVA, Auteur ; Naila LOURENÇO, Auteur ; Danielle P. MOREIRA, Auteur ; Cintia M. RIBEIRO, Auteur ; Ana Luiza B. MARTINS, Auteur ; Karina GRIESI-OLIVEIRA, Auteur ; Monize LAZAR, Auteur ; Silvia S. COSTA, Auteur ; Michel S. NASLAVSKY, Auteur ; Kátia M. ROCHA, Auteur ; Meire AGUENA, Auteur ; Agnes C. FETT-CONTE, Auteur ; Mayana ZATZ, Auteur ; Carla ROSENBERG, Auteur ; Elaine C. ZACHI, Auteur ; Débora R. BERTOLA, Auteur ; Estevão VADASZ, Auteur ; Maria Rita PASSOS-BUENO, Auteur Article en page(s) : p.145-151 Langues : Anglais (eng) Mots-clés : Autism Copy number variation Comparative genomic hybridization Neurodevelopmental disorder MBD2 SLC17A6 Index. décimale : PER Périodiques Résumé : Abstract Autism spectrum disorder (ASD) has a strong genetic basis and advances in genomic scanning methods have resulted in the identification of the underlying alterations in about 30% of the cases. The overwhelming majority of these alterations are either sequencing variants or large copy number variations (CNVs). In this pilot study, we tested whether the use of a customized array comparative genomic hybridization (aCGH), targeting exons of 269 ASD candidate genes, would allow the identification of small potentially pathogenic CNVs (<100 Kb). We detected 10 rare, potentially pathogenic CNVs in nine out of 98 patients with idiopathic ASD, and none of 200 Brazilian controls. Two out of five CNVs identified among the non-syndromic cases, involving the genes MBD2 and SLC17A6, were smaller than 100 Kb. In a subsequent screening of other 407 patients and 350 non-affected controls for CNVs involving SLC17A6, a gene without previous documentation in the literature of involvement with neurodevelopmental disorders, we found intragenic duplications in another proband but also in five controls. Of note, a commercial 500 K SNP-array did not detect the smallest gains in SLC17A6. Our results suggest that small CNVs contribute to the etiology of ASD and that customized CGH array has significant potential to improve the sensitivity for detecting this class of alterations. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.12.012 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282
in Research in Autism Spectrum Disorders > 23 (March 2016) . - p.145-151[article] Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) [Texte imprimé et/ou numérique] / Eloisa S. MOREIRA, Auteur ; Isabela M. W. SILVA, Auteur ; Naila LOURENÇO, Auteur ; Danielle P. MOREIRA, Auteur ; Cintia M. RIBEIRO, Auteur ; Ana Luiza B. MARTINS, Auteur ; Karina GRIESI-OLIVEIRA, Auteur ; Monize LAZAR, Auteur ; Silvia S. COSTA, Auteur ; Michel S. NASLAVSKY, Auteur ; Kátia M. ROCHA, Auteur ; Meire AGUENA, Auteur ; Agnes C. FETT-CONTE, Auteur ; Mayana ZATZ, Auteur ; Carla ROSENBERG, Auteur ; Elaine C. ZACHI, Auteur ; Débora R. BERTOLA, Auteur ; Estevão VADASZ, Auteur ; Maria Rita PASSOS-BUENO, Auteur . - p.145-151.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 23 (March 2016) . - p.145-151
Mots-clés : Autism Copy number variation Comparative genomic hybridization Neurodevelopmental disorder MBD2 SLC17A6 Index. décimale : PER Périodiques Résumé : Abstract Autism spectrum disorder (ASD) has a strong genetic basis and advances in genomic scanning methods have resulted in the identification of the underlying alterations in about 30% of the cases. The overwhelming majority of these alterations are either sequencing variants or large copy number variations (CNVs). In this pilot study, we tested whether the use of a customized array comparative genomic hybridization (aCGH), targeting exons of 269 ASD candidate genes, would allow the identification of small potentially pathogenic CNVs (<100 Kb). We detected 10 rare, potentially pathogenic CNVs in nine out of 98 patients with idiopathic ASD, and none of 200 Brazilian controls. Two out of five CNVs identified among the non-syndromic cases, involving the genes MBD2 and SLC17A6, were smaller than 100 Kb. In a subsequent screening of other 407 patients and 350 non-affected controls for CNVs involving SLC17A6, a gene without previous documentation in the literature of involvement with neurodevelopmental disorders, we found intragenic duplications in another proband but also in five controls. Of note, a commercial 500 K SNP-array did not detect the smallest gains in SLC17A6. Our results suggest that small CNVs contribute to the etiology of ASD and that customized CGH array has significant potential to improve the sensitivity for detecting this class of alterations. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.12.012 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings / K. OHASHI in Journal of Autism and Developmental Disorders, 51-12 (December 2021)
[article]
Titre : Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings Type de document : Texte imprimé et/ou numérique Auteurs : K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur Article en page(s) : p.4655-4662 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662[article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings [Texte imprimé et/ou numérique] / K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur . - p.4655-4662.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454