一例中国MYH9相关疾病患者中的新型MYH9变异

文献信息

中文摘要

目的： 探讨一例MYH9相关疾病患者的新型基因突变及临床特征，以加深对该病的认识。方法：收集临床信息，包括病史、相关实验室检查及家族史。对患者及其父母进行全外显子组测序（WES）。结果：一名19岁女性，有鼻出血和慢性血小板减少症病史。其姑母和兄弟也有血小板减少症病史。测序分析发现患者携带MYH9基因（c.5765 + 2T > G）和HBB基因（c.126_129del）突变，其中c.5765 + 2T > G突变为既往未报道的突变。Mutation Taster和Polyphen软件预测该MYH9剪接位点突变为致病性。结论：由于在本病例中发现了该剪接位点突变，我们将c.5765 + 2T > G纳入了潜在的MYH9突变谱。

英文摘要

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.