Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome (original) (raw)

Nature Genetics volume 25, pages 141–142 (2000)Cite this article

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.

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Figure 1: Northern-blot analysis and SPINK5 representative homozygous mutations in NS families.

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Acknowledgements

We thank the patients and their families, and S.H. Compton for critical reading of the manuscript. S.C. held a British Skin Foundation Fellowship and is a Marie Curie European Fellow. A.H. held a DEBRA Fellowship and is a Wellcome Trust Senior Fellow.

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Authors and Affiliations

  1. The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Stéphane Chavanas & Alain Hovnanian
  2. Department of Dermatology, Necker Hospital, Paris, France
    Christine Bodemer, Dominique Hamel-Teillac & Yves de Prost
  3. Epithelial Differentiation Laboratory, Ecole Normale Supérieure, Paris
    Ariane Rochat & Yann Barrandon
  4. Department of Dermatology, Amersham Hospital, Amersham, UK
    Mohsin Ali & John Wilkinson
  5. Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK
    Alan D. Irvine & John I. Harper
  6. Department of Dermatology, Rangueil Hospital, Toulouse, France
    Jean-Louis Bonafé
  7. Department of Dermatology, Saint-André Hospital, Bordeaux, France
    Alain Taïeb

Authors

  1. Stéphane Chavanas
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  2. Christine Bodemer
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  3. Ariane Rochat
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  4. Dominique Hamel-Teillac
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  5. Mohsin Ali
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  6. Alan D. Irvine
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  7. Jean-Louis Bonafé
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  8. John Wilkinson
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  9. Alain Taïeb
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  10. Yann Barrandon
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  11. John I. Harper
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  12. Yves de Prost
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  13. Alain Hovnanian
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Corresponding author

Correspondence toAlain Hovnanian.

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Chavanas, S., Bodemer, C., Rochat, A. et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.Nat Genet 25, 141–142 (2000). https://doi.org/10.1038/75977

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