Novel FOXC2 missense mutation identified in patient with Lymphedema-distichiasis syndrome and review

M. T. Dellinger, K. Thome, M. J. Bernas, R. P. Erickson, Marlys Hearst Witte

Research output: Contribution to journalReview article

15 Scopus citations

Abstract

Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.

Original languageEnglish (US)
Pages (from-to)98-102
Number of pages5
JournalLymphology
Volume41
Issue number3
StatePublished - Sep 1 2008

Keywords

  • FOXC2
  • Lymphedema-distichiasis
  • Primary lymphedema

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

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    Dellinger, M. T., Thome, K., Bernas, M. J., Erickson, R. P., & Witte, M. H. (2008). Novel FOXC2 missense mutation identified in patient with Lymphedema-distichiasis syndrome and review. Lymphology, 41(3), 98-102.