Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease
Objectives MYH9-related disease (MYH9-RD) is a congenital bleeding disorder characterized by thrombocytopenia, platelet macrocytosis, inclusion bodies in neutrophils.The aim of this study was to investigate a Chinese family with MYH9-RD and to identity potential mutations of the MYH9. This investiga...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2025.2532923 |
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| author | Ruimin Cai Shiyu Bai Yanjun Liu Fei Li Wenyang Wang Yi Li Qiang Feng |
| author_facet | Ruimin Cai Shiyu Bai Yanjun Liu Fei Li Wenyang Wang Yi Li Qiang Feng |
| author_sort | Ruimin Cai |
| collection | DOAJ |
| description | Objectives MYH9-related disease (MYH9-RD) is a congenital bleeding disorder characterized by thrombocytopenia, platelet macrocytosis, inclusion bodies in neutrophils.The aim of this study was to investigate a Chinese family with MYH9-RD and to identity potential mutations of the MYH9. This investigation will elucidate the molecular mechanisms involved in disease pathogenesis.Methods Whole exome sequencing (WES) followed by Sanger sequencing was conducted on all family members. Multiple bioinformatics tools were programmed to predict the conservation of mutations and the effect on the protein structure, including 3D protein model analysis.Results Gene sequencing revealed that the patient carried A de novo missense MYH9 mutation (c.4338T > G, p.Phe1446Leu). Bioinformatics and molecular modeling analyses predict the p.Phe1446Leu variant to be deleterious, with probable disruptive effects on protein structure and consequent functional impairment.Discussion Our study suggested that a de novo missense mutation in MYH9 may be causative to MYH9-RD. Furthermore, genetic sequencing is expected to soon become a standard component of the diagnostic evaluation for individuals with platelet disorders. |
| format | Article |
| id | doaj-art-51fc392f66cb44f8980c368bcbdd208f |
| institution | Kabale University |
| issn | 1607-8454 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-51fc392f66cb44f8980c368bcbdd208f2025-08-20T03:28:13ZengTaylor & Francis GroupHematology1607-84542025-12-0130110.1080/16078454.2025.2532923Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related diseaseRuimin Cai0Shiyu Bai1Yanjun Liu2Fei Li3Wenyang Wang4Yi Li5Qiang Feng6Department of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People’s Republic of ChinaDepartment of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People’s Republic of ChinaDepartment of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People’s Republic of ChinaDepartment of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People’s Republic of ChinaDepartment of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People’s Republic of ChinaDepartment of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People’s Republic of ChinaDepartment of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People’s Republic of ChinaObjectives MYH9-related disease (MYH9-RD) is a congenital bleeding disorder characterized by thrombocytopenia, platelet macrocytosis, inclusion bodies in neutrophils.The aim of this study was to investigate a Chinese family with MYH9-RD and to identity potential mutations of the MYH9. This investigation will elucidate the molecular mechanisms involved in disease pathogenesis.Methods Whole exome sequencing (WES) followed by Sanger sequencing was conducted on all family members. Multiple bioinformatics tools were programmed to predict the conservation of mutations and the effect on the protein structure, including 3D protein model analysis.Results Gene sequencing revealed that the patient carried A de novo missense MYH9 mutation (c.4338T > G, p.Phe1446Leu). Bioinformatics and molecular modeling analyses predict the p.Phe1446Leu variant to be deleterious, with probable disruptive effects on protein structure and consequent functional impairment.Discussion Our study suggested that a de novo missense mutation in MYH9 may be causative to MYH9-RD. Furthermore, genetic sequencing is expected to soon become a standard component of the diagnostic evaluation for individuals with platelet disorders.https://www.tandfonline.com/doi/10.1080/16078454.2025.2532923MYH9-related diseasemacrothrombocytopeniaDNA analysiscoiled-coil domain |
| spellingShingle | Ruimin Cai Shiyu Bai Yanjun Liu Fei Li Wenyang Wang Yi Li Qiang Feng Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease Hematology MYH9-related disease macrothrombocytopenia DNA analysis coiled-coil domain |
| title | Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease |
| title_full | Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease |
| title_fullStr | Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease |
| title_full_unstemmed | Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease |
| title_short | Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease |
| title_sort | identification of a de novo myh9 mutation in a chinese family with myh9 related disease |
| topic | MYH9-related disease macrothrombocytopenia DNA analysis coiled-coil domain |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2025.2532923 |
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