Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.

Fastre, Elodie;Lanteigne, Lydia-Elizabeth;Helaers, Raphaël;Giacalone, Guido;Vikkula, Miikka;et.al.
(2018) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 94, n° 1, p. 179-181 (2018)

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Abstract
(en) Primary lymphedema (PLE) is phenotypically heterogeneous and partially explained by mutations in 28 genes.1, 2 In Nonne‐Milroy disease (OMIM 153100), PLE appears typically at birth and is autosomal dominant with incomplete penetrance. Several mutations have been discovered in VEGFR3, but only 2 in its ligand VEGFC (c.571_572insTT; p.Pro191Leufs*10 and c.628C>T; p.Arg210*; Figure 1G), causing Milroy‐like disease (OMIM 615907).3, 4 VEGFC regulates lymphangiogenesis upon proper activation by ADAMTS3 and CCBE1,5 mutations in which cause Hennekam lymphangiectasia‐lymphedema syndrome1 . [...]
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Fastre, E., Lanteigne, L.-E., Helaers, R., Giacalone, G., Revencu, N., Dionyssiou, D., Demiri, E., Brouillard, P., & Vikkula, M. (2018). Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema. Clinical Genetics : an international journal of genetics and molecular medicine, 94(1), 179-181. https://doi.org/10.1111/cge.13204 (Original work published 2018)