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

T Planinsek Rucigaj, M Rijavec, J Miljkovic, J Selb, P Korosec

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.

Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene.

All affected family members with lymphoedema of lower limbs without distichiasis, and still asymptomatic six years old girl from the same family, carried the same previously unreported insertion of adenosine (c.867insA) in FOXC2.

Identification of a novel mutation in the FOXC2 gene in affected family members of three generations with lymphoedema of lower limbs without distichiasis, highlights the high phenotypic variability caused by FOXC2 mutations.


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RADIOLOGY AND ONCOLOGY, Association of Radiology and Oncology,
Zaloska 2, P.O.Box 2217, SI-1000 Ljubljana, Slovenia, T/F: +386 1 5879 434, Open access on the web: ISSN 1518-3207, De Gruyter
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