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15-02-2021 | Original Paper

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

Auteurs: Kei Ohashi, Satomi Fukuhara, Taishi Miyachi, Tomoko Asai, Masayuki Imaeda, Masahide Goto, Yoshie Kurokawa, Tatsuya Anzai, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Takanori Yamagata, Shinji Saitoh

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 12/2021

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Abstract

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.
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Literatuur
go back to reference Buxbaum, J. D. (2009). Multiple rare variants in the etiology of autism spectrum disorders. Dialogues in Clinical Neuroscience, 11(1), 35–43.CrossRef Buxbaum, J. D. (2009). Multiple rare variants in the etiology of autism spectrum disorders. Dialogues in Clinical Neuroscience, 11(1), 35–43.CrossRef
go back to reference Cross-Disorder Group of the Psychiatric Genomics, C., Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., et al. (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics, 45(9), 984–994. https://doi.org/10.1038/ng.2711. Cross-Disorder Group of the Psychiatric Genomics, C., Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., et al. (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics, 45(9), 984–994. https://​doi.​org/​10.​1038/​ng.​2711.
go back to reference Investigators, A. a. D. D. M. N. S. Y. P., & Prevention, C. f. D. C. a. (2012). Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveillience Summary, 61(3), 1–19. Investigators, A. a. D. D. M. N. S. Y. P., & Prevention, C. f. D. C. a. (2012). Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveillience Summary, 61(3), 1–19.
go back to reference Kalsner, L., Twachtman-Bassett, J., Tokarski, K., Stanley, C., Dumont-Mathieu, T., Cotney, J., & Chamberlain, S. (2018). Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. Molecular Genetics and Genomic Medicine, 6(2), 171–185. https://doi.org/10.1002/mgg3.354.CrossRefPubMed Kalsner, L., Twachtman-Bassett, J., Tokarski, K., Stanley, C., Dumont-Mathieu, T., Cotney, J., & Chamberlain, S. (2018). Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. Molecular Genetics and Genomic Medicine, 6(2), 171–185. https://​doi.​org/​10.​1002/​mgg3.​354.CrossRefPubMed
go back to reference Kurita, H., Miyake, Y., & Katsuno, K. (1989). Reliability and validity of the Childhood Autism Rating Scale-Tokyo version (CARS-TV). Journal of Autism and Developmental Disorders, 19(3), 389–396.CrossRef Kurita, H., Miyake, Y., & Katsuno, K. (1989). Reliability and validity of the Childhood Autism Rating Scale-Tokyo version (CARS-TV). Journal of Autism and Developmental Disorders, 19(3), 389–396.CrossRef
go back to reference Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., et al. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424. https://doi.org/10.1038/gim.2015.30.CrossRefPubMedPubMedCentral Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., et al. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424. https://​doi.​org/​10.​1038/​gim.​2015.​30.CrossRefPubMedPubMedCentral
go back to reference Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A., Cuccaro, M., et al. (1998). Autism and maternally derived aberrations of chromosome 15q. American Journal of Medical Genetics, 76(4), 327–336.CrossRef Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A., Cuccaro, M., et al. (1998). Autism and maternally derived aberrations of chromosome 15q. American Journal of Medical Genetics, 76(4), 327–336.CrossRef
Metagegevens
Titel
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
Auteurs
Kei Ohashi
Satomi Fukuhara
Taishi Miyachi
Tomoko Asai
Masayuki Imaeda
Masahide Goto
Yoshie Kurokawa
Tatsuya Anzai
Yoshinori Tsurusaki
Noriko Miyake
Naomichi Matsumoto
Takanori Yamagata
Shinji Saitoh
Publicatiedatum
15-02-2021
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 12/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-021-04910-3

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