Table 1

FOXC2 mutations found in a series of familial and isolated cases of lymphoedema-distichiasis. Those marked with an asterisk have previously been published11

FamilyMutation
I11 bp deletion at nt290-300*
II1 bp deletion at nt1331*
III1 bp insertion at nt209-210ins*
IV8 bp deletion at nt914-921del*
V1 bp insertion at nt866-867ins*
VI1 bp deletion at nt866del*
VII2 bp insertion at nt201-202ins*
VIII1 bp insertion at nt412-413ins*
IX1 bp insertion at nt595-596ins*
X2 bp insertion at nt638-639ins*
XI7 bpdeletion/3 bp insertion at nt1302-1308*
XII7 bp insertion at nt928-929ins*
XIII1 bp insertion at nt818-819ins*
XIVC to T causing S125L change*
XV1 bp insertion at nt595-596ins
XVI1 bp deletion at nt323del
XVIIG to A causing R121H change
XVIIIG to A causing W116STOP change
XIX1 bp insertion at nt1142-1143ins
XX4 bp duplication at nt1048-1051dup
XXI1 bp insertion at nt871-872ins
XXII8 bp deletion at nt922-929del
XXIIIC to A causing Y145STOP change