478 CRISPER/Cas 9 mediated introduction of the keratin 1 mutation in mice that are identified in patients with epidermolytic ichthyosis

Abstract

Mutations in the KRT1 cause epidermolytic ichthyosis (EI). There is a strong demand for the development of novel treatment measures. A mutation of c. 1436 T >C; p. Ile 479 Thr of K1 was identified in our case with severe palmoplantar keratoderma, and exaggerated skin lesion on joint skin. Our in silico survey revealed that this amino acid change caused a severe conformational alteration in the K1 protein, strongly suggesting that it interfered with the formation of the K1 / K10 coiled- coil complex.