Scientific Publications

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

Publication TypeJournal Article
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 M. J., Lifton RP, De Camilli P., Zhao H., Sestan N., and State MW
AbstractWhole-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.
Year of Publication2014
JournalMolecular autism
Volume5
Pages31
Date Published (YYYY/MM/DD)2014/01/01
DOI10.1186/2040-2392-5-31
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/24860643?dopt=Abstract