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

作者：DiGiovanni R M; Erickson R P; Ohlson E C; Bernas M; Witte M H^*

来源：Lymphology, 2014, 47(1): 44-47.

• Milroy's Disease
• primary lymphedema
• FLT4
• novel gene mutation

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.

• 出版日期2014-3