Ontology highlight
ABSTRACT:
SUBMITTER: Hartung AM
PROVIDER: S-EPMC4873146 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Hartung Anne-Mette AM Swensen Jeff J Uriz Inaki E IE Lapin Morten M Kristjansdottir Karen K Petersen Ulrika S S US Bang Jeanne Mari V JM Guerra Barbara B Andersen Henriette Skovgaard HS Dobrowolski Steven F SF Carey John C JC Yu Ping P Vaughn Cecily C Calhoun Amy A Larsen Martin R MR Dyrskjøt Lars L Stevenson David A DA Andresen Brage S BS
PLoS genetics 20160519 5
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 ...[more]