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Article

Mutational Landscape of Autism Spectrum Disorder Brain Tissue

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Biosciences Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
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The Centre for Applied Genomics (TCAG), The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada
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College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates
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Genetics and Genomics Medicine Centre, NeuroGen Healthcare, Dhaka 1205, Bangladesh
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Faculty of Medicine, Memorial University, St. John’s, NL A1B 3V6, Canada
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Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada
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Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada
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Cellular Intelligence (Ci) Lab, GenomeArc Inc., Toronto, ON M5G 0A4, Canada
*
Author to whom correspondence should be addressed.
Academic Editor: Kun Xia
Genes 2022, 13(2), 207; https://doi.org/10.3390/genes13020207
Received: 30 December 2021 / Revised: 20 January 2022 / Accepted: 21 January 2022 / Published: 24 January 2022
(This article belongs to the Special Issue Progress in Genetics of Autism)
Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain tissue, most studies rely on estimates of mosaicism from peripheral samples. In this study, we undertook whole exome sequencing on brain tissue from 26 ASD brain donors from the Harvard Brain Tissue Resource Center (HBTRC) and ascertained the presence of post-zygotic and germline mutations categorized as pathological, including those impacting known ASD-implicated genes. Although quantification did not reveal enrichment for post-zygotic mutations compared with the controls (n = 15), a small number of pathogenic, potentially ASD-implicated mutations were identified, notably in TRAK1 and CLSTN3. Furthermore, germline mutations were identified in the same tissue samples in several key ASD genes, including PTEN, SC1A, CDH13, and CACNA1C. The establishment of tissue resources that are available to the scientific community will facilitate the discovery of new mutations for ASD and other neurodevelopmental disorders. View Full-Text
Keywords: exome sequencing; post-zygotic; somatic; germline; brain tissue; autism spectrum disorder (ASD) exome sequencing; post-zygotic; somatic; germline; brain tissue; autism spectrum disorder (ASD)
MDPI and ACS Style

Woodbury-Smith, M.; Lamoureux, S.; Begum, G.; Nassir, N.; Akter, H.; O’Rielly, D.D.; Rahman, P.; Wintle, R.F.; Scherer, S.W.; Uddin, M. Mutational Landscape of Autism Spectrum Disorder Brain Tissue. Genes 2022, 13, 207. https://doi.org/10.3390/genes13020207

AMA Style

Woodbury-Smith M, Lamoureux S, Begum G, Nassir N, Akter H, O’Rielly DD, Rahman P, Wintle RF, Scherer SW, Uddin M. Mutational Landscape of Autism Spectrum Disorder Brain Tissue. Genes. 2022; 13(2):207. https://doi.org/10.3390/genes13020207

Chicago/Turabian Style

Woodbury-Smith, Marc, Sylvia Lamoureux, Ghausia Begum, Nasna Nassir, Hosneara Akter, Darren D. O’Rielly, Proton Rahman, Richard F. Wintle, Stephen W. Scherer, and Mohammed Uddin. 2022. "Mutational Landscape of Autism Spectrum Disorder Brain Tissue" Genes 13, no. 2: 207. https://doi.org/10.3390/genes13020207

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