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

Authors
  • Lai, L W1
  • Erickson, R P2
  • Bernas, M3, 4
  • Witte, M H3
  • 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.
Type
Published Article
Journal
Lymphology
Publication Date
Jan 01, 2018
Volume
51
Issue
2
Pages
85–88
Identifiers
PMID: 30253460
Source
Medline
Keywords
Language
English
License
Unknown

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. Copyright by International Society of Lymphology.

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