From childhood onset lymphedema to fatal fetal hydrops: Possible modifying genes for a FOXC2 mutation.

We performed whole exome sequencing in a family with FOXC2 mutation where the phenotype in one generation was strikingly more severe. Although there were 3 mutations shared by 2 fatal fetal hydrops cases and not the mildly affected mother, none of them were likely to be the cause of the marked phenotypic change. Copyright by International Society of Lymphology.