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

Robert S. Wildin; Fred Ramsdell; Jane Peake; Francesca Faravelli; Jean Laurent Casanova; Neil Buist; Ephrat Levy-Lahad; Massimo Mazzella; Olivier Goulet; Lucia Perroni; Franca Dagna Bricarelli; Geoffrey Byrne; Mark McEuen; Sean Proll; Mark Appleby; Mary E. Brunkow

doi:10.1038/83707

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

Robert S. Wildin^*
, Fred Ramsdell
, Jane Peake
, Francesca Faravelli
, Jean Laurent Casanova
, Neil Buist
, Ephrat Levy-Lahad
, Massimo Mazzella
, Olivier Goulet
, Lucia Perroni
, Franca Dagna Bricarelli
, Geoffrey Byrne
, Mark McEuen
, Sean Proll
, Mark Appleby
, Mary E. Brunkow

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

1649 Scopus citations

Abstract

To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MINI 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.

Original language	English
Pages (from-to)	18-20
Number of pages	3
Journal	Nature Genetics
Volume	27
Issue number	1
DOIs	https://doi.org/10.1038/83707
State	Published - 2001
Externally published	Yes

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SDG 3 Good Health and Well-being

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10.1038/83707

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Wildin, R. S., Ramsdell, F., Peake, J., Faravelli, F., Casanova, J. L., Buist, N., Levy-Lahad, E., Mazzella, M., Goulet, O., Perroni, L., Dagna Bricarelli, F., Byrne, G., McEuen, M., Proll, S., Appleby, M., & Brunkow, M. E. (2001). X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nature Genetics, 27(1), 18-20. https://doi.org/10.1038/83707

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title = "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; MINI 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.",

author = "Wildin, \{Robert S.\} and Fred Ramsdell and Jane Peake and Francesca Faravelli and Casanova, \{Jean Laurent\} and Neil Buist and Ephrat Levy-Lahad and Massimo Mazzella and Olivier Goulet and Lucia Perroni and \{Dagna Bricarelli\}, Franca and Geoffrey Byrne and Mark McEuen and Sean Proll and Mark Appleby and Brunkow, \{Mary E.\}",

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doi = "10.1038/83707",

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Wildin, RS, Ramsdell, F, Peake, J, Faravelli, F, Casanova, JL, Buist, N, Levy-Lahad, E, Mazzella, M, Goulet, O, Perroni, L, Dagna Bricarelli, F, Byrne, G, McEuen, M, Proll, S, Appleby, M & Brunkow, ME 2001, 'X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy', Nature Genetics, vol. 27, no. 1, pp. 18-20. https://doi.org/10.1038/83707

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T1 - X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

AU - Wildin, Robert S.

AU - Ramsdell, Fred

AU - Peake, Jane

AU - Faravelli, Francesca

AU - Casanova, Jean Laurent

AU - Buist, Neil

AU - Levy-Lahad, Ephrat

AU - Mazzella, Massimo

AU - Goulet, Olivier

AU - Perroni, Lucia

AU - Dagna Bricarelli, Franca

AU - Byrne, Geoffrey

AU - McEuen, Mark

AU - Proll, Sean

AU - Appleby, Mark

AU - Brunkow, Mary E.

PY - 2001

Y1 - 2001

N2 - To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MINI 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.

AB - To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MINI 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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JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -

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

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