Table 1

FOXP3 sequence variations found in genomic DNA from IPEX patients

ReferencesFamilyMutation (cDNA)Predicted consequenceComment
Institutional human subjects approval was obtained. See reference 16 for methods.
This report11040G>AR347HWinged helix I
2IVS9 + 459 A>GNoneKnown variant (GenBank AF235097)
3{748delAAGΔK250Predicted coiled coil domain
543C>TS181SKnown variant (GenBank AF235097)
16 11189C>TR397W
2del1290-1309/insTGGGPter> VGKGGWTNRGQTGGRQRWWGQGAdds tail to Wing-2 of winged helix domain
31113T>GF371CExon 10
41150G>AA384TWinged helix
15, 161No coding region mutation, but A>G in first polyadenylation signalReduced levels of normally coded mRNAAttenuated phenotype
15 11150G>AA384TWinged helix
15 21293delCTter432T (+ 25 residues)Adds tail to Wing-2 of winged helix domain
12 100IVS9 + 4 A>GExon 9 skipped; frameshift at codon 273, stop at 286.Eliminates winged helix domain
200600delGGAΔE2013-heptad, myc-like zip motif
17 1227delTFrameshift, stop at 128Eliminates all structural domains
2A1087GI363VWinged helix II