A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation

Carole Sargent, Julien Bauer, Muhamed Khalil, Parker Filmore, Michael Bernas, Marlys Witte, M. Peggy Pearson, Robert P. Erickson

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation. Karyotypes disclosed an extra band in Xp in one affected fetus, but this was also found in the mother. Copy number variation (CNV) studies on four members of the pedigree (mother of the three severely affected fetuses/infants; one severely affected; a full, and a half, unaffected sibs) did not detect the source of the Xp band or a possible influence on the severe phenotype. However, use of SNP arrays did allow identification of the portion of the maternal proximal Xp shared by a hydrops-affected daughter and son which was not shared by an unaffected daughter from the same sibship.

Original languageEnglish (US)
Pages (from-to)2802-2807
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number11
DOIs
StatePublished - Nov 1 2014

Keywords

  • FOXC2
  • Fetal hydrops
  • Lymphedema
  • Lymphedema distichiasis
  • Xp

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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