Article
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Nature medicine - 1 Jul 2019
Li Dong, March Michael E, Gutierrez-Uzquiza Alvaro, Kao Charlly, Seiler Christoph, Pinto Erin, Matsuoka Leticia S, Battig Mark R, Bhoj Elizabeth J, Wenger Tara L, Tian Lifeng, Robinson Nora, Wang Tiancheng, Liu Yichuan, Weinstein Brant M, Swift Matthew, Jung Hyun Min, Kaminski Courtney N, Chiavacci Rosetta, Perkins Jonathan A, Levine Michael A, Sleiman Patrick M A, Hicks Patricia J, Strausbaugh Janet T, Belasco Jean B, Dori Yoav, Hakonarson Hakon
Abstract excerpt
The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown etiologies, depends on the patient manifestations1. Identifying the causal genes will allow for developing affordable therapies in keeping with precision medicine implementation2. Here we identified a recurrent gain-of-function ARAF mutation (c.640T>C:p.S214P) in a 12-year-old boy with advanced anomalous lymphatic disease...
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