Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema
Pascal Brouillard,
Aino Murtomäki,
Veli-Matti Leppänen
et al.
Abstract:Primary lymphedema (PL), characterized by tissue swelling, fat accumulation and fibrosis, results from defective lymphatic vessels or valves caused by mutations in genes involved in development, maturation and function of the lymphatic vascular system. Pathogenic variants in various genes have been identified in about 30% of PL cases. By screening of a cohort of 755 individuals with PL, we identified two TIE1 (tyrosine kinase with immunoglobulin-and epidermal growth factor-like domains 1) missense variants and… Show more
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