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

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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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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