Table 1

FOXC2 mutations

Family No	FOXC2 mutation	Effect on FOXC2 protein
1^1-150	297C→G	Y99X
2^1-150	1093^1094dupGGCC	PTC + 98aa^1-151
3	602-681insACAAAdel79nt	PTC + 235aa^1-151
4	792^793insA	PTC + 197aa^1-151
5	951C→A	C317X
6	298C→T	Q100X
7	914-921delACGCCGCC	PTC + 154aa^1-151
8	683^684insG	PTC + 233aa^1-151
9	818^819insG	PTC + 188aa^1-151

↵1-150 From Fang et al.4
↵1-151 PTC +
1-159 aa = premature termination codon + number of novel amino acids.