A novel FLT4 gene mutation identified in a patient with Milroy disease

R. M. DiGiovanni, R. P. Erickson, E. C. Ohlson, M. Bernas, Marlys H. Witte

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Milroy disease is an autosomal dominant disorder generally presenting with below the knee lymphedema at birth. It is linked to mutations in the tyrosine kinase domain of the VEGFR3 protein which is encoded in the FLT4 gene. Here we report a case of Milroy disease in a patient with a dominant pattern of inheritance, classical physical findings, and lymphatic system imaging demonstrating lack of tracer transport in the lower limbs. Genetic analysis revealed a novel missense mutation compared to a summary of reported mutations causing Milroy Disease.

Original languageEnglish (US)
Pages (from-to)44-47
Number of pages4
JournalLymphology
Volume47
Issue number1
StatePublished - Mar 2014

Keywords

  • FLT4
  • Milroy's disease
  • Novel gene mutation
  • Primary lymphedema

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

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    DiGiovanni, R. M., Erickson, R. P., Ohlson, E. C., Bernas, M., & Witte, M. H. (2014). A novel FLT4 gene mutation identified in a patient with Milroy disease. Lymphology, 47(1), 44-47.