Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation
Article first published online: 18 MAY 2005
Volume 45, Issue 2, pages 59–61, June 2005
How to Cite
Mizuno, S., Yamada, Y., Yamada, K., Nomura, N. and Wakamatsu, N. (2005), Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. Congenital Anomalies, 45: 59–61. doi: 10.1111/j.1741-4520.2005.00064.x
- Issue published online: 18 MAY 2005
- Article first published online: 18 MAY 2005
- Received December 28, 2004; revised accepted February 22, 2005.
- hereditary lymphedema;
- Milroy disease;
ABSTRACT Hereditary lymphedema type I (Milroy disease) is a rare autosomal dominant disease resulting from mutations of FLT4 encoding the vascular endothelial growth factor receptor-3. Patients develop edema of the legs and feet, resulting in chronic swelling of the lower extremities from the neonatal period. Here we report a Japanese family with 10 affected members of five generations of hereditary lymphedema type I. We identified a previously reported missense mutation of G857R in one allele of FLT4 from three affected individuals of three generations, the mother of whom presented only hemi-lymphedema of the left foot. Thus, the clinical features of hereditary lymphedema type I caused by a FLT4 mutation are heterogeneous and it would be appropriate to consider FLT4 mutations even in a patient with hemi-lymphedema of the foot.