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A Deleterious Ephb4 Mutation Suppresses Prox1 Expression And Disrupts Lymphatic Development In Neonatal Non-Immune Hydrops, Gangaram Akangire, Heather Menden, Sheng Xia, Atif Ahmed, Venkatesh Sampath
A Deleterious Ephb4 Mutation Suppresses Prox1 Expression And Disrupts Lymphatic Development In Neonatal Non-Immune Hydrops, Gangaram Akangire, Heather Menden, Sheng Xia, Atif Ahmed, Venkatesh Sampath
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Background: Non-immune hydrops fetalis is often a fatal condition and in 20% of cases related to lymphatic anomalies. Maldevelopment of lymphatic valves, atretic or absence of central lymphatic vessels has been described in hydrops fetalis, but the genetic basis of these anomalies remains undefined. Recent reports suggest that Ephrin type B receptor 4 (EPHB4) gene has a significant role in embryonic development of lymphatic system. To test the hypothesis that EPHB4 mutations can cause hydrops fetalis, we combined whole exome sequencing (WES) with functional and pathological analysis of an infant who succumbed to neonatal hydrops.
Objective: To discover the possible …