title: New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
abstract: 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.
authors.affiliation: Genetic Skin Disease Group, St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: K
authors.initials: K
authors.lastname: Fong
authors.forename: S
authors.initials: S
authors.lastname: Akdeniz
authors.forename: H
authors.initials: H
authors.lastname: Isi
authors.forename: M
authors.initials: M
authors.lastname: Taskesen
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: J E
authors.initials: JE
authors.lastname: Lai-Cheong
mesh_terms: D003241:Consanguinity; D005260:Female; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D056770:Netherton Syndrome / Q000235:genetics*; D010375:Pedigree; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D014421:Turkey
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5