Article
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Nature communications - 20 Oct 2017
Reijnders M R F, Kousi M, van Woerden G M, Klein M, Bralten J, Mancini G M S, van Essen T, Proietti-Onori M, Smeets E E J, van Gastel M, Stegmann A P A, Stevens S J C, Lelieveld S H, Gilissen C, Pfundt R, Tan P L, Kleefstra T, Franke B, Elgersma Y, Katsanis N, Brunner H G
Abstract excerpt
De novo mutations in specific mTOR pathway genes cause brain overgrowth in the context of intellectual disability (ID). By analyzing 101 mMTOR-related genes in a large ID patient cohort and two independent population cohorts, we show that these genes modulate brain growth in health and disease. We report the mTOR activator gene RHEB as an ID gene that is associated with megalencephaly when mutated. Functional...
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