Genetics of autism spectrum disorders and future direction

Autism spectrum disorders (ASDs) have been increasing in prevalence. ASD is a complex human genetic disorder with high heredity and involves interactions between genes and the environment. A significant inheritance pattern in ASD involves a rare genetic mutation; common copy number variants refer to...

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Bibliographic Details
Published in:Journal of human genetics 2023-03, Vol.68 (3), p.193-197
Main Authors: Yasuda, Yuka, Matsumoto, Junya, Miura, Kenichiro, Hasegawa, Naomi, Hashimoto, Ryota
Format: Article
Language:English
Subjects:
Autism
Chromosome deletion
Copy number
DNA methylation
Embryogenesis
Epigenetics
Gene deletion
Genetic disorders
Genomes
Haploinsufficiency
Kinases
Mental disorders
Mutation
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Summary:Autism spectrum disorders (ASDs) have been increasing in prevalence. ASD is a complex human genetic disorder with high heredity and involves interactions between genes and the environment. A significant inheritance pattern in ASD involves a rare genetic mutation; common copy number variants refer to duplication or deletion of stretches of chromosomal loci or protein-disrupting single-nucleotide variants. Haploinsufficiency is one of the more common single-gene causes of ASD, explaining at least 0.5% of cases. Epigenetic mechanisms, such as DNA methylation, act at an interface of genetic and environmental risk and protective factors. Advances in genome-wide sequencing have broadened the view of the human methylome and have revealed the organization of the human genome into large-scale methylation domains with a footprint over neurologically important genes involved in embryonic development. Psychiatric disorders, including ASD, are expected to be diagnosed based on their genetically regulated pathophysiology and to be linked to their treatment.
ISSN:1434-5161
1435-232X
DOI:10.1038/s10038-022-01076-3