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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Nature Genetics volume 27, pages 18–20 (2001)Cite this article

Abstract

To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.

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Figure 1: Human (h) and mouse (m) scurfin, HNF3γ and Genesis winged-helix domain amino acid sequences with IPEX mutations.

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Acknowledgements

We thank J. Searle and B. Powell for advice; A. Brown for technical assistance; the patients' families for donating samples; and Galliera Genetic Bank Italian Telethon project C42 for the stored samples from family 4. This work was supported by the Department of Molecular and Medical Genetics at Oregon Health Sciences University (R.S.W.) and by Celltech Chiroscience (M.E.B., M.A., M.Mc., S.P. and F.R.).

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Authors and Affiliations

  1. Department of Molecular and Medical Genetics, L103A, Oregon Health Sciences University, Portland, Oregon, USA

    Robert S. Wildin

  2. Celltech Chiroscience, Inc., Bothell, Washington, USA

    Fred Ramsdell, Mark McEuen, Sean Proll, Mark Appleby & Mary E. Brunkow

  3. Department of Paediatrics and Child Health, Royal Children's Hospital, Brisbane, Australia

    Jane Peake

  4. Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy

    Francesca Faravelli, Lucia Perroni & Franca Dagna Bricarelli

  5. Service d'Immunologie et d'Hématologie Pédiatriques, The Laboratory of Human Genetics of Infectious Diseases (JLC), and Pediatric Gastroenterology (OG), University Hospital Necker-Enfants Malades, Paris, France

    Jean-Laurent Casanova & Olivier Goulet

  6. Department of Pediatrics, Oregon Health Sciences University, Portland, Oregon, USA

    Neil Buist

  7. Medical Genetics Unit, Shaare Zedek Medical Center , Jerusalem, Israel

    Ephrat Levy-Lahad

  8. Department of Neonatology, Neonatological Intensive Care Unit, G. Gaslini Institute, Genoa, Italy

    Massimo Mazzella

  9. Department of Endocrinology, Princess Margaret Hospital, Perth, Australia

    Geoffrey Byrne

Authors
  1. Robert S. Wildin
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  2. Fred Ramsdell
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  7. Ephrat Levy-Lahad
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  10. Lucia Perroni
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  12. Geoffrey Byrne
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  13. Mark McEuen
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  14. Sean Proll
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  15. Mark Appleby
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  16. Mary E. Brunkow
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Correspondence to Robert S. Wildin.

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Wildin, R., Ramsdell, F., Peake, J. et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 27, 18–20 (2001). https://doi.org/10.1038/83707

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