Hereditary lymphedema type I associated with VEGFR3 mutation

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Hereditary lymphedema type I associated with VEGFR3 mutation

Postby patoco » Wed Sep 20, 2006 1:03 pm

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken JB,
Boon LM, Vikkula M.
Laboratory of Human Molecular Genetics, Christian de Duve Institute of
Cellular Pathology, Universite catholique de Louvain, Brussels,


Mutations in the vascular endothelial growth factor receptor 3 gene,
VEGFR3/FLT4, have been identified in a subset of families with
hereditary lymphedema type I or Milroy disease (MIM 153100).
Individuals carrying a VEGFR3 mutation exhibit congenital edema of the
lower limbs, usually bilaterally and below the knees, sometimes
associated with cellulitis, prominent veins, papillomatosis, upturned
toenails, and hydrocele.

In this study, we report the first de novo VEGFR3 mutation in a patient
with sporadic congenital lymphedema. We also describe three other
families with a VEGFR3 mutation. In each family, one individual had an
atypical clinical presentation of hereditary lymphedema type I, whereas
the others had the classical VEGFR3 mutation-caused phenotype. The
atypical presentations included pre-natal pleural effusion, spontaneous
resorption of lymphedema and elephantiasis. Three of the four
identified mutations were novel. These data show that de novo VEGFR3
mutations may be present in patients without family history of
congenital lymphedema. This has implications for follow-up care, as
such individuals have nearly a 50% risk for occurrence of lymphedema in
their children.

Our findings also indicate that although most patients with a VEGFR3
mutation have the well-defined phenotype for hereditary lymphedema type I, there are exceptions that should be considered in genetic
counseling. Because VEGFR3 mutation can cause generalized lymphatic
dysfunction and can thus result in hydrops fetalis, VEGFR3 screening
should be added to the investigation of cases of hydrops fetalis of an
unknown etiology.

PMID: 16965327 [PubMed - in process] ... etrieve&...


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