Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.
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.
Mizuno
Seiji
S
Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi 480-0392, Japan. mzn@aichi-colony.jp
Yamada
Yasukazu
Y
Yamada
Kenichiro
K
Nomura
Noriko
N
Wakamatsu
Nobuaki
N
D005192:Family Health; D005260:Female; D005534:Foot Diseases / Q000151:congenital / Q000235:genetics / Q000473:pathology; D005838:Genotype; D006801:Humans; D008209:Lymphedema / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D040321:Vascular Endothelial Growth Factor Receptor-3 / Q000235:genetics*
D040321:Vascular Endothelial Growth Factor Receptor-3