Article
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
PLoS genetics - 1 May 2016
Hartung Anne-Mette, Swensen Jeff, Uriz Inaki E, Lapin Morten, Kristjansdottir Karen, Petersen Ulrika S S, Bang Jeanne Mari V, Guerra Barbara, Andersen Henriette Skovgaard, Dobrowolski Steven F, Carey John C, Yu Ping, Vaughn Cecily, Calhoun Amy, Larsen Martin R, Dyrskjøt Lars, Stevenson David A, Andresen Brage S
Abstract excerpt
Costello syndrome (CS) may be caused by activating mutations in codon 12/13 of the HRAS proto-oncogene. HRAS p.Gly12Val mutations have the highest transforming activity, are very frequent in cancers, but very rare in CS, where they are reported to cause a severe, early lethal, phenotype. We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS. Analysis of...
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