New compound heterozygous SPINK5 mutations in a Chinese infant with Netherton syndrome

Abstract

Netherton syndrome (NS; OMIM #256500) is a rare autosomal recessive disorder caused by loss-of-function mutations in SPINK5 gene encoding lymphoepithelial Kazal-type-related inhibitor (LEKTI), and characterized by triad of linear circumflex ichthyosis, trichorrhexis invaginata (bamboo hair), and atopic predisposition with high serum IgE levels.1,2 More than 80 different mutations of SPINK5 gene have been identified in NS.1,3 We identified new compound heterozygous SPINK5 mutations in a Chinese NS infant.