A recent study has found a mutation in a gene, which causes lymphoedema as well as eye problems and microcephaly (reduced head size).

The gene KIF11 has been linked to a condition called microcephaly-lymphoedema-chorioretinal dyplasia (MLCRD), which is a genetic disorder affecting the head, eyes and limbs. The discovery, published in the American Journal of Human Genetics, is thought to be important for the prevention and treatment of lymphoedema.

Five patients with MLCRD were examined and their genes sequenced, leading to the discovery of the gene mutation the patients all had in common. This was then also confirmed in 24 other patient's DNA sequences. The mutation has an impact on protein function and affects the lymphatic system.

See the study by clicking here.

Image: Swollen foot. Credit: _rockinfree on Flickr.