一名中年缺血性脑卒中女性患者的 LPA 基因中存在一种新的缺失突变。
A novel deletion mutation in the LPA gene in a middle-aged woman with ischaemic stroke.
机构信息
Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, 200062, China.
Department of Neurology, and Institute of Neurology, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China.
出版信息
BMC Med Genomics. 2021 May 18;14(1):132. doi: 10.1186/s12920-021-00982-3.
BACKGROUND
Genetic diversity of the human LPA gene locus is associated with high plasma concentrations of lipoprotein(a) [Lp(a)]. High Lp(a) concentrations are strongly associated with a high incidence rate of ischaemic stroke.
CASE PRESENTATION
A 46-year-old female Chinese patient suffered from ischaemic stroke. Upon admission to the hospital, the patient was diagnosed with an elevated level of plasma Lp(a). The patient's clinical symptoms were alleviated by administration of basilar artery stent thrombectomy, mannitol, and aspirin. A novel compound heterozygous deletion of the region containing exons 3-16 covering kringle IV copy number variation (KIV CNV) domains in the LPA gene was observed in genetic analysis by next-generation sequencing and confirmed by qPCR.
CONCLUSIONS
In the current study, we reported a case of a 46-year-old female patient diagnosed with ischaemic stroke. This novel heterozygous deletion mutation in the LPA gene expands the spectrum of LPA mutations. Further study is required to understand the mechanism of LPA mutations in ischaemic stroke.
背景
人类 LPA 基因座的遗传多样性与脂蛋白(a) [Lp(a)]的血浆浓度升高有关。高 Lp(a)浓度与缺血性中风的发生率高密切相关。
病例介绍
一位 46 岁的中国女性患者患有缺血性中风。患者入院时被诊断为血浆 Lp(a)水平升高。基底动脉支架血栓切除术、甘露醇和阿司匹林治疗缓解了患者的临床症状。通过下一代测序的遗传分析观察到 LPA 基因中包含外显子 3-16 的区域的新型复合杂合缺失，该区域覆盖 Kringle IV 拷贝数变异（KIV CNV）结构域，并通过 qPCR 得到证实。
结论
在本研究中，我们报告了一例 46 岁女性缺血性中风患者的病例。LPA 基因中的这种新型杂合缺失突变扩展了 LPA 突变谱。需要进一步研究来了解 LPA 突变在缺血性中风中的机制。
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