Volume 5 Issue 1
Jun.  2021
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Yafei Tian, Yongping Zhang, Shaoyan Hu, Lilan Yao, Yijian Zhu, Shenglong Qiao, Daru Lu, Junjie Fan. Identification of a novel MYH9 mutation (p. V782Y) in a Chinese patient with thrombocytopenia: a case report[J]. Blood&Genomics, 2021, 5(1): 63-67. doi: 10.46701/BG.2021012021113
Citation: Yafei Tian, Yongping Zhang, Shaoyan Hu, Lilan Yao, Yijian Zhu, Shenglong Qiao, Daru Lu, Junjie Fan. Identification of a novel MYH9 mutation (p. V782Y) in a Chinese patient with thrombocytopenia: a case report[J]. Blood&Genomics, 2021, 5(1): 63-67. doi: 10.46701/BG.2021012021113

Identification of a novel MYH9 mutation (p. V782Y) in a Chinese patient with thrombocytopenia: a case report

doi: 10.46701/BG.2021012021113
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  • Corresponding author: Daru Lu, NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, No. 420 Baohuan Road, Chongqing 401120, China. E-mail: drlu@fudan.edu.cn; Junjie Fan, Department of Hematology and Oncology, Children's Hospital of Soochow University, No. 92 Zhongnan Road, Suzhou, Jiangsu 215000, China. E-mail: jjiefan@126.com
  • Received Date: 2021-04-26
  • Accepted Date: 2021-06-18
  • Rev Recd Date: 2021-05-31
  • Publish Date: 2021-06-01
  • MYH9-related diseases (MYH9-RD) are a group of autosomal dominant diseases caused by mutations in the MYH9 gene, which are featured by thrombocytopenia, giant platelets and granulocyte cytoplasmic inclusion bodies. MYH9-RD patients generally suffer from bleeding syndromes, progressive kidney disease, deafness, or cataracts. Here, we reported on a case of MYH9-RD. A novel heterozygous mutation of MYH9 (c.2344-2345delGTinsTA, p.T782Y) was discovered by targeted sequencing technology. Immunofluorescence analysis of neutrophils confirmed abnormal aggregation of MYH9 protein. The results of this study should expand the MYH9 gene mutation spectrum and provide reference for subsequent researchers and genetic counseling.


  • These authors contributed equally to this work.
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