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Nat Genet. 2001 Jan;27(1):18-20.

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

Author information

  • 1Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA. wildinr@ohsu.edu

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.

PMID:
11137992
[PubMed - indexed for MEDLINE]
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