A novel MYH9 variant in a Chinese patient with MYH9 related disease.
4 affiliations
- 1Queen Mary School, Nanchang University, Nanchang, 330006, China.
- 2Department of Clinical Laboratory, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330000, China.
- 3Department of medical genetics, Molecular Medicine of Jiangxi Key Laboratory, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330000, Nanchang, China.
- 4Department of medical genetics, Molecular Medicine of Jiangxi Key Laboratory, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330000, Nanchang, China. [email protected].
Abstract
To investigate the novel genetic mutations and clinical characteristics in a patient with MYH9 related disease in order to enhance understanding of the disease. Clinical information was obtained, including medical history, pertinent laboratory tests, and family history. Whole exome sequencing (WES) was conducted on the patient and her parents. A 19-year-old female presented with a history of epistaxis and chronic thrombocytopenia. Her aunt and brother also have a history of thrombocytopenia. Sequencing analysis revealed mutations of MYH9 gene (c.5765 + 2T > G) and HBB gene (c.126_129del) in the patient, with the c.5765 + 2T > G mutation being previously unreported. The splice site mutation of MYH9 was predicted to be pathogenic by Mutation Taster and Polyphen software programs. As a result of identifying this splicing site mutation in this particular case, we have added c.5765 + 2T > G to the broad spectrum of potential MYH9 mutations.
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BibTeX
@article{li2026novel,
title = {{A novel MYH9 variant in a Chinese patient with MYH9 related disease.}},
author = {Haocheng Li and Xiang Li and Wanlei Sun and Shaoqin Liu and Mengyao Han and Jiayi Feng and Wenfeng He},
journal = {Annals of hematology},
year = {2026},
month = aug,
doi = {10.1007/s00277-026-07181-z},
url = {https://europepmc.org/article/MED/42967963},
note = {CC BY},
}
RIS
TY - JOUR
TI - A novel MYH9 variant in a Chinese patient with MYH9 related disease.
AU - Haocheng Li
AU - Xiang Li
AU - Wanlei Sun
AU - Shaoqin Liu
AU - Mengyao Han
AU - Jiayi Feng
AU - Wenfeng He
PY - 2026
DA - 2026/08/05
JO - Annals of hematology
DO - 10.1007/s00277-026-07181-z
UR - https://europepmc.org/article/MED/42967963
AB - To investigate the novel genetic mutations and clinical characteristics in a patient with MYH9 related disease in order to enhance understanding of the disease. Clinical information was obtained, including medical history, pertinent laboratory tests, and family history. Whole exome sequencing (WES) was conducted on the patient and her parents. A 19-year-old female presented with a history of epistaxis and chronic thrombocytopenia. Her aunt and brother also have a history of thrombocytopenia. Sequencing analysis revealed mutations of MYH9 gene (c.5765 + 2T > G) and HBB gene (c.126_129del) in the patient, with the c.5765 + 2T > G mutation being previously unreported. The splice site mutation of MYH9 was predicted to be pathogenic by Mutation Taster and Polyphen software programs. As a result of identifying this splicing site mutation in this particular case, we have added c.5765 + 2T > G to the broad spectrum of potential MYH9 mutations.
SN - 0939-5555
SN - 1432-0584
ER -