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

RS Wildin, F Ramsdell, J Peake, F Faravelli… - Nature …, 2001 - nature.com
RS Wildin, F Ramsdell, J Peake, F Faravelli, JL Casanova, N Buist, E Levy-Lahad
Nature genetics, 2001nature.com
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.
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.
nature.com