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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

PLoS Genet.. 2016; 
HartungAnne-Mette,SwensenJeff,UrizInaki E,LapinMorten,KristjansdottirKaren,PetersenUlrika S S,BangJeanne Mari V,GuerraBarbara,AndersenHenriette Skovgaard,DobrowolskiSteven F,CareyJohn C,YuPing,VaughnCecily,CalhounAmy,LarsenMartin R,DyrskjøtLars,StevensonDavid A,AndresenBra
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摘要

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 his HRAS cDNA showed high levels of exon 2 skipping. Using wild type and mutant HRAS minigenes, we confirmed that c.35_36GC>TG results in exon 2 skipping by simultaneously disrupting the function of a critical Exonic Splicing Enhancer (ESE) and creation of an Exonic Splicing Silencer (... More

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