A NOVEL FLT4 GENE MUTATION IDENTIFIED IN A PATIENT WITH MILROY DISEASE

Abstract

Milroy disease is an autosomal dominantdisorder generally presenting with below theknee lymphedema at birth. It is linked tomutations in the tyrosine kinase domain ofthe VEGFR3 protein which is encoded in theFLT4 gene. Here we report a case of Milroydisease in a patient with a dominant patternof inheritance, classical physical findings, andlymphatic system imaging demonstrating lackof tracer transport in the lower limbs. Geneticanalysis revealed a novel missense mutationcompared to a summary of reported mutationscausing Milroy Disease.