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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  • [1]
    Pecci A, Ma XF, Savoia A, et al. MYH9: structure, functions and role of non-muscle myosin ⅡA in human disease[J]. Gene, 2018, 664: 152−167. doi: 10.1016/j.gene.2018.04.048
    [2]
    Asensio-Juárez G, Llorente-González C, Vicente-Manzanares M. Linking the landscape of MYH9-related diseases to the molecular mechanisms that control non-muscle myosinⅡ-a function in cells[J]. Cells, 2020, 9(6): 1458. doi: 10.3390/cells9061458
    [3]
    Roy A, Lordier L, Mazzi S, et al. Activity of nonmuscle myosinⅡ isoforms determines localization at the cleavage furrow of megakaryocytes[J]. Blood, 2016, 128(26): 3137−3145. doi: 10.1182/blood-2016-04-711630
    [4]
    Wang B, Qi XL, Liu J, et al. MYH9 promotes growth and metastasis via activation of MAPK/AKT signaling in colorectal cancer[J]. J Cancer, 2019, 10(4): 874−884. doi: 10.7150/jca.27635
    [5]
    Zehrer A, Pick R, Salvermoser M, et al. A fundamental role of myh9 for neutrophil migration in innate immunity[J]. J Immunol, 2018, 201(6): 1748−1764. doi: 10.4049/jimmunol.1701400
    [6]
    Vicente-Manzanares M, Ma XF, Adelstein RS, et al. Non-muscle myosin Ⅱ takes centre stage in cell adhesion and migration[J]. Nat Rev Mol Cell Biol, 2009, 10(11): 778−790. doi: 10.1038/nrm2786
    [7]
    Ye GT, Huang KZ, Yu J, et al. MicroRNA-647 targets SRF-MYH9 axis to suppress invasion and metastasis of gastric cancer[J]. Theranostics, 2017, 7(13): 3338−3353. doi: 10.7150/thno.20512
    [8]
    Zhou PT, Li YY, Li B, et al. NMIIA promotes tumor growth and metastasis by activating the Wnt/β-catenin signaling pathway and EMT in pancreatic cancer[J]. Oncogene, 2019, 38(27): 5500−5515. doi: 10.1038/s41388-019-0806-6
    [9]
    Althaus K, Greinacher A. MYH9-related platelet disorders[J]. Semin Thromb Hemost, 2009, 35(2): 189−203. doi: 10.1055/s-0029-1220327
    [10]
    Ai Q, Zhao LS, Yin J, et al. A novel de novo MYH9 mutation in MYH9-related disease: a case report and review of literature[J]. Medicine (Baltimore), 2020, 99(4): e18887. doi: 10.1097/MD.0000000000018887
    [11]
    Lalwani AK, Linthicum FH, Wilcox ER, et al. A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration[J]. Audiol Neurootol, 1997, 2(3): 139−154. doi: 10.1159/000259237
    [12]
    Lalwani AK, Luxford WM, Mhatre AN, et al. A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration[J]. Am J Hum Genet, 1999, 64(1): 318−323. doi: 10.1086/302216
    [13]
    Dantas VGL, Lezirovitz K, Yamamoto GL, et al. c. G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family[J]. Genet Mol Biol, 2014, 37(4): 616−621. doi: 10.1590/S1415-47572014005000025
    [14]
    Canzi P, Pecci A, Manfrin M, et al. Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients[J]. Acta Otorhinolaryngol Ital, 2016, 36(5): 415−420. doi: 10.14639/0392-100X-702
    [15]
    Murayama S, Akiyama M, Namba H, et al. Familial cases with MYH9 disorders caused by MYH9 S96L mutation[J]. Pediatr Int, 2013, 55(1): 102−104. doi: 10.1111/j.1442-200X.2012.03619.x
    [16]
    Zaninetti C, Greinacher A. Diagnosis of inherited platelet disorders on a blood smear[J]. J Clin Med, 2020, 9(2): 539. doi: 10.3390/jcm9020539
    [17]
    Kunishima S, Matsushita T, Kojima T, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations[J]. Lab Invest, 2003, 83(1): 115−122. doi: 10.1097/01.LAB.0000050960.48774.17
    [18]
    Kanematsu T, Suzuki N, Yoshida T, et al. A case of MYH9 disorders caused by a novel mutation (p. K74E)[J]. Ann Hematol, 2016, 95(1): 161−163. doi: 10.1007/s00277-015-2506-9
    [19]
    Li K, Jin RM, Xu WF, et al. A de novo mutation in MYH9 in a child with severe and prolonged macrothrombocytopenia[J]. J Pediatr Hematol Oncol, 2021, 43(1): e7−e10. doi: 10.1097/MPH.0000000000001846
    [20]
    Zaninetti C, De Rocco D, Giangregorio T, et al. MYH9-related thrombocytopenia: four novel variants affecting the tail domain of the non-muscle myosin heavy chain ⅡA associated with a mild clinical evolution of the disorder[J]. Hamostaseologie, 2019, 39(1): 87−94. doi: 10.1055/s-0038-1645840
    [21]
    Noris P, Balduini CL. Inherited thrombocytopenias in the era of personalized medicine[J]. Haematologica, 2015, 100(2): 145−148. doi: 10.3324/haematol.2014.122549
    [22]
    Zhang WC, Lian XQ, Sun YF, et al. A sporadic MYH9-related disease in a Chinese boy with p. A95T mutation[J]. Hematology, 2020, 25(1): 34−36. doi: 10.1080/16078454.2019.1706808
    [23]
    Kunishima S, Saito H. Advances in the understanding of MYH9 disorders[J]. Curr Opin Hematol, 2010, 17(5): 405−410. doi: 10.1097/MOH.0b013e32833c069c
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