A NOVEL FLT4 GENE MUTATION IDENTIFIED IN A PATIENT WITH MILROY DISEASE
- RM DiGiovanni
- RP Erickson
- EC Ohlson
- M Bernas
- MH Witte
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.
Keywords: Milroy's Disease, primary lymphedema, FLT4, novel gene mutation
How to Cite:
DiGiovanni, R. & Erickson, R. & Ohlson, E. & Bernas, M. & Witte, M., (2014) “A NOVEL FLT4 GENE MUTATION IDENTIFIED IN A PATIENT WITH MILROY DISEASE”, Lymphology 47(1), 44-47.
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