Ren Yanlong, Zhang Yahui, Zhang Xiaoping, Wang Yueli, Liu Xuxia, Sheng Jin, Ning Shangqiu, Liu Wenxian, Li Xiaoyan
Department of Cardiology, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1551-1555. doi: 10.3760/cma.j.cn511374-20220606-00383.
To explore the genetic basis for a patient with Dilated cardiomyopathy.
A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG).
DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4).
The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.
探讨一名扩张型心肌病患者的遗传基础。
选取2022年4月入住首都医科大学附属北京安贞医院的一名患者作为研究对象。收集患者的临床资料和家族史。进行靶向外显子组测序。根据美国医学遗传学与基因组学学会（ACMG）的指南，通过桑格测序和生物信息学分析对候选变异进行验证。
DNA测序显示该患者携带FLNC基因的杂合c.5044dupG移码变异。根据ACMG指南，该变异被预测可能致病（PVS1+PM2_Supporting+PP4）。
FLNC基因的杂合c.5044dupG变异可能是该患者发病机制的基础，这为其家族的遗传咨询提供了依据。
