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| 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 |
| Author | Institution |
| 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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