Identification of a novel MYH9 mutation (p. V782Y) in a Chinese patient with thrombocytopenia: a case report
Received:April 26, 2021  Revised:May 31, 2021
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DOI:10.46701/BG.2021012021113
KeyWord:MYH9-related diseases (MYH9-RD)  thrombocytopenia  p.V782Y mutation
                       
AuthorInstitution
Yafei Tian NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing 401120, China;State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200438, China
Yongping Zhang Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou, Jiangsu 215000, China
Shaoyan Hu Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou, Jiangsu 215000, China
Lilan Yao Key Laboratory of Cell Engineering of Guizhou Province, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563000, China
Yijian Zhu State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200438, China
Shenglong Qiao MyGenostics Inc., Beijing 101300, China
Daru Lu NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing 401120, China;State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200438, China
Junjie Fan Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou, Jiangsu 215000, China
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Abstract:
      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.
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