Article
CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk.
Cell death & disease - 7 Jul 2022
Chen Yi, Zhang Yang, Wang Zhihua, Wang Yewei, Luo Yujiao, Sun Nannan, Zheng Shasha, Yan Wenzhe, Xiao Xiang, Liu Sufang, Li Ji, Peng Hongling, Xu Yunxiao, Hu Guoyu, Cheng Zhao, Zhang Guangsen
Abstract excerpt
Herein, we describe the clinical and hematological features of three genetically related families predisposed to myeloproliferative neoplasms (MPNs). Using whole-exome sequencing, we identified a c.1367delG mutation(p.Arg456fs) in CHST15 (NM_001270764), a gene encoding a type II transmembraneglycoproteinthat acts as a sulfotransferase and participates in the biosynthesis of chondroitin sulfate E, in germline and...
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