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Genetics of lymphatic anomalies
Pascal Brouillard, … , Laurence Boon, Miikka Vikkula
Pascal Brouillard, … , Laurence Boon, Miikka Vikkula
Published March 3, 2014
Citation Information: J Clin Invest. 2014;124(3):898-904. https://doi.org/10.1172/JCI71614.
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Genetics of lymphatic anomalies

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Abstract

Lymphatic anomalies include a variety of developmental and/or functional defects affecting the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary lymphedema, chylothorax and chylous ascites, lymphatic malformations, and overgrowth syndromes with a lymphatic component. Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors. These mutations exert their effects via the RAS/MAPK and the PI3K/AKT pathways and explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms. More common forms may also result from multigenic effects or post-zygotic mutations. Most of the corresponding murine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in human and murine physiology and the influence of other factors.

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Pascal Brouillard, Laurence Boon, Miikka Vikkula

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