Article
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
European journal of human genetics : EJHG - 1 Sept 2024
Paulet Alix, Bennett-Ness Cavan, Ageorges Faustine, Trost Detlef, Green Andrew, Goudie David, Jewell Rosalyn, Kraatari-Tiri Minna, Piard Juliette, Coubes Christine, Lam Wayne, Lynch Sally Ann, Groeschel Samuel, Ramond Francis, Fluss Joël, Fagerberg Christina, Brasch Andersen Charlotte, Varvagiannis Konstantinos, Kleefstra Tjitske, Gérard Bénédicte, Fradin Mélanie, Vitobello Antonio, Tenconi Romano, Denommé-Pichon Anne-Sophie, Vincent-Devulder Aline, Haack Tobias, Marsh Joseph A, Laulund Lone Walentin, Grimmel Mona, Riess Angelika, de Boer Elke, Padilla-Lopez Sergio, Bakhtiari Somayeh, Ostendorf Adam, Zweier Christiane, Smol Thomas, Willems Marjolaine, Faivre Laurence, Scala Marcello, Striano Pasquale, Bagnasco Irene, Koboldt Daniel, Iascone Maria, Suerink Manon, Kruer Michael C, Levy Jonathan, Verloes Alain, Abbott Catherine M, Ruaud Lyse
Abstract excerpt
Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with...
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