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Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders

Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo 162-8666, Japan
Academic Editors: Koh-ichi Nagata and Orly Reiner
Cells 2021, 10(9), 2317; https://doi.org/10.3390/cells10092317
Received: 26 July 2021 / Revised: 30 August 2021 / Accepted: 3 September 2021 / Published: 4 September 2021
(This article belongs to the Special Issue Pathophysiological Mechanism of Neurodevelopmental Disorders)
Genomic studies are increasingly revealing that neurodevelopmental disorders are caused by underlying genomic alterations. Chromosomal microarray testing has been used to reliably detect minute changes in genomic copy numbers. The genes located in the aberrated regions identified in patients with neurodevelopmental disorders may be associated with the phenotypic features. In such cases, haploinsufficiency is considered to be the mechanism, when the deletion of a gene is related to neurodevelopmental delay. The loss-of-function mutation in such genes may be evaluated using next-generation sequencing. On the other hand, the patients with increased copy numbers of the genes may exhibit different clinical symptoms compared to those with loss-of-function mutation in the genes. In such cases, the additional copies of the genes are considered to have a dominant negative effect, inducing cell stress. In other cases, not the copy number changes, but mutations of the genes are responsible for causing the clinical symptoms. This can be explained by the dominant negative effects of the gene mutations. Currently, the diagnostic yield of genomic alterations using comprehensive analysis is less than 50%, indicating the existence of more subtle alterations or genomic changes in the untranslated regions. Copy-neutral inversions and insertions may be related. Hence, better analytical algorithms specialized for the detection of such alterations are required for higher diagnostic yields. View Full-Text
Keywords: nonallelic homologous recombination (NAHR); contiguous gene deletion syndrome; classical microdeletion syndrome; genome disease; diagnostic yield; exome sequencing nonallelic homologous recombination (NAHR); contiguous gene deletion syndrome; classical microdeletion syndrome; genome disease; diagnostic yield; exome sequencing
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MDPI and ACS Style

Yamamoto, T. Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders. Cells 2021, 10, 2317. https://doi.org/10.3390/cells10092317

AMA Style

Yamamoto T. Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders. Cells. 2021; 10(9):2317. https://doi.org/10.3390/cells10092317

Chicago/Turabian Style

Yamamoto, Toshiyuki. 2021. "Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders" Cells 10, no. 9: 2317. https://doi.org/10.3390/cells10092317

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