With the exception of 2 variants reported by Prasad et al. (2016), allAI-causing LAMB3 variants are close to the C-terminus and arepredicted to create PTCs at positions that are unlikely to trigger NMD (Isken and Maquat 2007).Unlike the loss-of-function variants associated with recessively inherited JEB,these AI-causing variants are likely to be expressed and potentially cause isolatedAI pathology through a dominant negative effect, possibly through endoplasmicreticulum stress or dysfunctional assembly and/or function of the heterotrimericLM332 complex. This evidence concerns the gene LAMB3 and junctional epidermolysis bullosa.