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J Clin Invest. 2014 Mar;124(3):898-904. doi: 10.1172/JCI71614. Epub 2014 Mar 3.

Genetics of lymphatic anomalies.

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.

PMID:
24590274
PMCID:
PMC3938256
DOI:
10.1172/JCI71614
[Indexed for MEDLINE]
Free PMC Article
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