Two missense mutations in the FNIII-2 domain of integrin β4, R1225H and R1282W, that abolish plectin–integrin β4 interaction result in EBS with pyloric atresia (Koster et al. 2001, 2003; de Pereda et al. 2009b). The gene discussed is PLEC; the disease is epidermolysis bullosa simplex.