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

Authors
  • DiGiovanni, R M
  • Erickson, R P
  • Ohlson, E C
  • Bernas, M
  • Witte, M H
Type
Published Article
Journal
Lymphology
Publication Date
Mar 01, 2014
Volume
47
Issue
1
Pages
44–47
Identifiers
PMID: 25109169
Source
Medline
License
Unknown

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.

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