Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema
A Mendola, MJ Schlögel, A Ghalamkarpour… - Molecular …, 2013 - karger.com
Molecular syndromology, 2013•karger.com
Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling
that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or
secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal
dominant or recessive manner. It can also occur in combination with other clinical features.
Nine mutated genes have been identified in different isolated or syndromic forms of
lymphedema. However, the prevalence of primary lymphedema that can be explained by …
that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or
secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal
dominant or recessive manner. It can also occur in combination with other clinical features.
Nine mutated genes have been identified in different isolated or syndromic forms of
lymphedema. However, the prevalence of primary lymphedema that can be explained by …
Abstract
Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes have been identified in different isolated or syndromic forms of lymphedema. However, the prevalence of primary lymphedema that can be explained by these genetic alterations is unknown. In this study, we investigated 7 of these putative genes. We screened 78 index patients from families with inherited lymphedema for mutations in FLT4, GJC2, FOXC2, SOX18,
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