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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 1820 (2001) | Download Citation

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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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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.).

Author information

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

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Correspondence to Robert S. Wildin.

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DOI

https://doi.org/10.1038/83707

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