title: Is c.1431-12G>A A common European mutation ofSPINK5?report of a patient with Netherton Syndrome.
abstract: Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in theSPINK5gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with twoSPINK5mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity.
authors.affiliation: Department of Pediatrics, Wroclaw Medical University, Wroclaw, Poland.
authors.forename: R
authors.initials: R
authors.lastname: Śmigiel
authors.affiliation: Department of Neonatology, Wroclaw Medical University, Wroclaw, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Królak-Olejnik
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Śniegórska
authors.affiliation: Department of Pediatrics, Wroclaw Medical University, Wroclaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Rozensztrauch
authors.affiliation: Department of Neonatology, Wroclaw Medical University, Wroclaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Szafrańska
authors.affiliation: Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
authors.forename: M M
authors.initials: MM
authors.lastname: Sasiadek
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: K
authors.initials: K
authors.lastname: Wertheim-Tysarowska
keywords: Mutation; Netherton Syndrome (NS); SPINK5 gene