Therefore aim of this study was to further investigate the CDKN2A 5’UTR in an extended cohort of PC patients and use the previously proposed pipeline for functional analysis, including gene reporter assays, polysomal profiling and western blot, as a further contribution towards establishing the effect of these 5’UTR variants on cap-independent translation when the cap dependent process is inhibited. Here, CDKN2A is linked to pachyonychia congenita.