New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis

Autosomal recessive lamellar ichthyosis (LI) is a severe skin disorder characterized by generalized hyperkeratosis. Gene mutation in transglutaminase 1 (TGM1), which mediates cross-links in the formation of the cell envelope during terminal differentiation of epidermis, has been identified as a cause of LI.To determine mutations of TGM1 gene in three Chinese families with LI.The TGM1 gene was sequenced to identify disease-causing mutations in...