“…In this regard, it is of interest that PPKP1 has been associated with increased epidermal growth factor receptor (EGFR) signalling, 10 but a recent study ruled out a possible interaction between EGFR signalling and SLURP-1 function. 11 To conclude, we describe here the first nonstop mutation in SLURP1, resulting in a highly atypical phenotype, indistinguishable from AKE. These data need confirmation in additional cases.…”