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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662 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 [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

---

1 (1 - 1 / 1)