作者
Yuka Yasuda, Junya Matsumoto, Kenichiro Miura, Naomi Hasegawa, Ryota Hashimoto
发表日期
2023/3
来源
Journal of Human Genetics
卷号
68
期号
3
页码范围
193-197
出版商
Springer Nature Singapore
简介
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 …
引用总数
学术搜索中的文章
Y Yasuda, J Matsumoto, K Miura, N Hasegawa… - Journal of Human Genetics, 2023