Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) is caused by de novo variants in WAS protein family member 1 (WASF1), which encodes WAVE1. WAVE1 is a component of the WAVE complex and functions as a mediator between Rac-GTPase and actin to promote actin polymerization. Functional studies have demonstrated that these mutations can lead to defects in actin remodeling.
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonca C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C, Boycott KM, Kernohan KD, Dyack S, Raymond FL
タイトル
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
