ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

@article{Li2019ARAFRM,
  title={ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor},
  author={Dong Li and Michael E. March and {\'A}lvaro Gutierrez-Uzquiza and Charlly Kao and Christoph Seiler and Erin Pinto and Leticia S Matsuoka and Mark R. Battig and Elizabeth Joyce Bhoj and Tara L. Wenger and Lifeng Tian and Nora K. Robinson and Tiancheng Wang and Yichuan Liu and Brant M. Weinstein and Matthew R. Swift and Hyungjn Jung and Courtney N Kaminski and Rosetta Chiavacci and Jonathan A Perkins and Michael A Levine and Patrick M A Sleiman and Patricia J Hicks and Janet T Strausbaugh and Jean Bello Belasco and Yoav Dori and Hakon H. Hakonarson},
  journal={Nature Medicine},
  year={2019},
  volume={25},
  pages={1116-1122}
}
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 unresponsive to conventional sirolimus therapy and in another, unrelated, adult… 

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