Lymphedema-distichiasis syndrome without FOXC2 mutation: Evidence for chromosome 16 duplication upstream of FOXC2

Marlys H. Witte, R. P. Erickson, M. Khalil, M. Dellinger, M. Bernas, T. Grogan, H. Nitta, J. Feng, D. Duggan, C. L. Witte

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

A patient with the classical phenotype of Lymphedema-Distichiasis syndrome (OMIM 153400) is described who showed no mutations in the sequence of FOXC2. Accordingly, a Gene Chip 250k array analysis was undertaken with dense SNP genotyping of the genomic region surrounding the FOXC2 locus on Chromosome 16 followed by copy number evaluation by real time PCR. The latter assay showed evidence of a duplicated region 5' of FOXC2 that could be causative for the patient's striking phenotype, which included both distichiasis and a hyperplastic refluxing lymphatic vascular and lymph node phenotype associated with pubertal onset lymphedema, scoliosis and strabismus.

Original languageEnglish (US)
Pages (from-to)152-160
Number of pages9
JournalLymphology
Volume42
Issue number4
StatePublished - Dec 1 2009

Keywords

  • Chromosome 16 duplication
  • Chromosome copy number variation
  • Distichiasis
  • FOXC2
  • Foxc2
  • Lymphedema

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

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    Witte, M. H., Erickson, R. P., Khalil, M., Dellinger, M., Bernas, M., Grogan, T., Nitta, H., Feng, J., Duggan, D., & Witte, C. L. (2009). Lymphedema-distichiasis syndrome without FOXC2 mutation: Evidence for chromosome 16 duplication upstream of FOXC2. Lymphology, 42(4), 152-160.