Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

S Chavanas; C Bodemer; A Rochat; D Hamel-Teillac; M Ali; A D Irvine; J L Bonafé; J Wilkinson; A Taïeb; Y Barrandon; J I Harper; Y de Prost; A Hovnanian

doi:10.1038/75977

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

Nat Genet. 2000 Jun;25(2):141-2. doi: 10.1038/75977.

Authors

S Chavanas¹, C Bodemer, A Rochat, D Hamel-Teillac, M Ali, A D Irvine, J L Bonafé, J Wilkinson, A Taïeb, Y Barrandon, J I Harper, Y de Prost, A Hovnanian

Affiliation

¹ The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

PMID: 10835624
DOI: 10.1038/75977

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Amino Acid Sequence
Base Sequence
Carrier Proteins*
Chromosomes, Human, Pair 5 / genetics
Codon, Terminator / genetics
DNA Mutational Analysis
Exons / genetics
Frameshift Mutation / genetics
Genes, Recessive / genetics
Humans
Introns / genetics
Mutation / genetics*
Proteinase Inhibitory Proteins, Secretory
RNA, Messenger / genetics
RNA, Messenger / metabolism
Serine Peptidase Inhibitor Kazal-Type 5
Serine Proteinase Inhibitors / genetics*
Syndrome

Substances

Carrier Proteins
Codon, Terminator
Proteinase Inhibitory Proteins, Secretory
RNA, Messenger
SPINK5 protein, human
Serine Peptidase Inhibitor Kazal-Type 5
Serine Proteinase Inhibitors