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Genetics of autism spectrum disorders and future direction

A Correction to this article was published on 29 August 2023

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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.

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This research was supported by JSPS KAKENHI Grant Number JP18K15522, JP19H05467, and JP20H03611; AMED under Grant Number JP21dk0307103, JP21dm0207069, JP21dm0307002, JP21wm0425012, and JP21uk1024002; and Intramural Research Grant (3–1) for Neurological and Psychiatric Disorders of NCNP. We gratefully acknowledge the cooperation and patience of all individuals who participated in this study. This research was supported by JSPS KAKENHI Grant Numbers JP20K06920 and JP20K16653 and AMED under Grant Numbers JP19dm0207069, JP21wm0425012, JP18dm0307002, and JP21uk1024002.

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YY wrote the first draft of the manuscript. RH was involved in the writing of the manuscript. JM, NH, and KM contributed to the interpretation of the data and writing of the manuscript. All authors contributed to and have approved the final manuscript.

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Correspondence to Yuka Yasuda.

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The original online version of this article was revised: In the legend of table 1, ‘50 genes’ should have read ‘approximately 50 genes’.

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Yasuda, Y., Matsumoto, J., Miura, K. et al. Genetics of autism spectrum disorders and future direction. J Hum Genet 68, 193–197 (2023).

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