Article
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
European journal of human genetics : EJHG - 1 Aug 2016
Cavé Hélène, Caye Aurélie, Ghedira Nehla, Capri Yline, Pouvreau Nathalie, Fillot Natacha, Trimouille Aurélien, Vignal Cédric, Fenneteau Odile, Alembik Yves, Alessandri Jean-Luc, Blanchet Patricia, Boute Odile, Bouvagnet Patrice, David Albert, Dieux Coeslier Anne, Doray Bérénice, Dulac Olivier, Drouin-Garraud Valérie, Gérard Marion, Héron Delphine, Isidor Bertrand, Lacombe Didier, Lyonnet Stanislas, Perrin Laurence, Rio Marlène, Roume Joëlle, Sauvion Sylvie, Toutain Annick, Vincent-Delorme Catherine, Willems Marjorie, Baumann Clarisse, Verloes Alain
Abstract excerpt
Noonan syndrome is a heterogeneous autosomal dominant disorder caused by mutations in at least eight genes involved in the RAS/MAPK signaling pathway. Recently, RIT1 (Ras-like without CAAX 1) has been shown to be involved in the pathogenesis of some patients. We report a series of 44 patients from 30 pedigrees (including nine multiplex families) with mutations in RIT1. These patients display a typical Noonan...
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