|Publication Type||Journal Article|
|Year of Publication||2014|
|Authors||Gupta, AR, Pirruccello, M, Cheng, F, Kang, HJ, Fernandez, TV, Baskin, JM, Choi, M, Liu, L, Ercan-Sencicek, AG, Murdoch, JD, Klei, L, Neale, BM, Franjic, D, Daly, MJ, Lifton, RP, De Camilli, P, Zhao, H, Sestan, N, State, MW|
Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD.