‘Autism spectrum disorder and brain volume link through a set of mTOR-related genes’
Open Access paper from the JCPP
Background – Larger than average head and brain sizes are often observed in individuals with autism spectrum disorders (ASDs). ASD and brain volume are both highly heritable, with multiple genetic variants contributing. However, it is unclear whether ASD and brain volume share any genetic mechanisms. Genes from the mammalian target of rapamycin (mTOR) pathway influence brain volume, and variants are found in rare genetic syndromes that include ASD features. Here we investigated whether variants in mTOR-related genes are also associated with ASD and if they constitute a genetic link between large brains and ASD.
Authors: Martina Arenella, Nina R. Mota, Mariel W. A. Teunissen, Han G. Brunner, Janita Bralten
First published: 15 March 2023
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