A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis

Abstract

Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset.

Keywords

• primary lymphedema
• foxc2 mutation
• distichiasis
• lower limbs lymphedema