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Brief Communication
Nature Genetics  27, 18 - 20 (2001)
doi:10.1038/83707

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

Robert S. Wildin1, Fred Ramsdell2, Jane Peake3, Francesca Faravelli4, Jean-Laurent Casanova5, Neil Buist6, Ephrat Levy-Lahad7, Massimo Mazzella8, Olivier Goulet5, Lucia Perroni4, Franca Dagna Bricarelli4, Geoffrey Byrne9, Mark McEuen2, Sean Proll2, Mark Appleby2 & Mary E. Brunkow2

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

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

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

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

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.

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

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

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

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

Correspondence should be addressed to Robert S. Wildin wildinr@ohsu.edu
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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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