title: Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
abstract: We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
authors.forename: S
authors.initials: S
authors.lastname: Chavanas
authors.forename: C
authors.initials: C
authors.lastname: Bodemer
authors.forename: A
authors.initials: A
authors.lastname: Rochat
authors.forename: D
authors.initials: D
authors.lastname: Hamel-Teillac
authors.forename: M
authors.initials: M
authors.lastname: Ali
authors.forename: A D
authors.initials: AD
authors.lastname: Irvine
authors.forename: J L
authors.initials: JL
authors.lastname: Bonafé
authors.forename: J
authors.initials: J
authors.lastname: Wilkinson
authors.forename: A
authors.initials: A
authors.lastname: Taïeb
authors.forename: Y
authors.initials: Y
authors.lastname: Barrandon
authors.forename: J I
authors.initials: JI
authors.lastname: Harper
authors.forename: Y
authors.initials: Y
authors.lastname: de Prost
authors.forename: A
authors.initials: A
authors.lastname: Hovnanian
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D053491:Proteinase Inhibitory Proteins, Secretory; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D018388:Codon, Terminator; D053491:Proteinase Inhibitory Proteins, Secretory; D012333:RNA, Messenger; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors