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

L W Lai; R P Erickson; M Bernas; M H Witte

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

Lymphology. 2018;51(2):85-88.

Authors

L W Lai¹, R P Erickson², M Bernas^{3

4}, M H Witte³

Affiliations

¹ Department of Chemistry and Biochemistry, University of Arizona College of Medicine, Tucson, USA.
² Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA.
³ Department of Surgery, University of Arizona College of Medicine, Tucson, USA.
⁴ Department of Medical Education, TCU and UNTHSC School of Medicine, Fort Worth, USA.

PMID: 30253460

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.

Copyright by International Society of Lymphology.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Age Factors
Age of Onset
Exome Sequencing
Forkhead Transcription Factors / genetics*
Gene Expression Profiling
Genes, Modifier*
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Hydrops Fetalis / diagnosis
Hydrops Fetalis / genetics*
Infant
Infant, Newborn
Lymphedema / diagnosis
Lymphedema / genetics*
Mutation*
Pedigree
Phenotype
Polymorphism, Single Nucleotide

Substances

Forkhead Transcription Factors
mesenchyme fork head 1 protein