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Case Reports
. 2018;51(2):85-88.

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

L W Lai  1 , R P Erickson  2 , M Bernas  3   4 , M H Witte  3
Affiliations
  • PMID: 30253460
Case Reports

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

L W Lai et al. Lymphology. 2018.

Abstract

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.

Keywords: FOXC2; fatal fetal hydrops; lymphedema; modifying genes.

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Conflict of interest statement

The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose.

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