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Molecular autism DOI:10.1186/2040-2392-5-31

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.

Publication TypeJournal Article
Year of Publication2014
AuthorsGupta, 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
JournalMolecular autism
Date Published2014/01/01

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.