Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2
A Ghalamkarpour, C Debauche, E Haan… - The Journal of …, 2009 - Elsevier
A Ghalamkarpour, C Debauche, E Haan, N Van Regemorter, Y Sznajer, D Thomas…
The Journal of pediatrics, 2009•ElsevierOBJECTIVES: To investigate the genetic causes of idiopathic sporadic prenatal generalized
edema. STUDY DESIGN: In a series of 12 patients, in whom in utero generalized skin
edema or hydrops fetalis had been diagnosed, we screened 3 lymphangiogenic genes,
VEGFR3, FOXC2, and SOX18. RESULTS: In 3 of the patients, we identified a mutation: 2 in
VEGFR3 and 1 in FOXC2. Two of the mutations were de novo and one was either de novo
or nonpenetrant inherited. In these patients, the generalized edema resorbed …
edema. STUDY DESIGN: In a series of 12 patients, in whom in utero generalized skin
edema or hydrops fetalis had been diagnosed, we screened 3 lymphangiogenic genes,
VEGFR3, FOXC2, and SOX18. RESULTS: In 3 of the patients, we identified a mutation: 2 in
VEGFR3 and 1 in FOXC2. Two of the mutations were de novo and one was either de novo
or nonpenetrant inherited. In these patients, the generalized edema resorbed …
OBJECTIVES
To investigate the genetic causes of idiopathic sporadic prenatal generalized edema.
STUDY DESIGN
In a series of 12 patients, in whom in utero generalized skin edema or hydrops fetalis had been diagnosed, we screened 3 lymphangiogenic genes, VEGFR3, FOXC2, and SOX18.
RESULTS
In 3 of the patients, we identified a mutation: 2 in VEGFR3 and 1 in FOXC2. Two of the mutations were de novo and one was either de novo or nonpenetrant inherited. In these patients, the generalized edema resorbed spontaneously, either in utero or after birth. In the 2 individuals with a VEGFR3 mutation, edema remained limited to lower limbs.
CONCLUSIONS
Mutations in the VEGFR3 and FOXC2 genes account for a subset of patients with unexplained in utero generalized subcutaneous edema and hydrops fetalis without family history of lymphedema. Lymphangiogenic genes should be screened for mutations in sporadic patients diagnosed with fetal edema.
Elsevier