New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

Summary

Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype–phenotype correlation in this condition.

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome is a post from: Skincare

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome is a post from: Skincare

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