FLNC变异致扩张型心肌病患者1例的基因检测及临床特征分析

Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene

目的对1例扩张型心肌病患者行目标基因测序,明确其致病变异,为临床诊断和遗传咨询提供依据。方法选择2022年4月在首都医科大学附属北京安贞医院就诊的1例扩张型心肌病患者作为研究对象,完善患者的临床资料、病史及家族史信息。利用高通量测序技术对患者进行目标基因测序,通过Sanger测序对候选变异进行家系验证。根据美国医学遗传学与基因组学学会(ACMG)相关指南对候选变异进行致病性判定。结果高通量测序及Sanger验证均显示患者携带FLNC基因c.5044dupG杂合移码变异。根据ACMG指南判定为疑似致病变异(PVS1+PM2_Supporting+PP4)。结论FLNC基因c.5044dupG杂合变异可能是该患者扩张型心肌病的遗传学病因。上述结果为患者及其家族成员的遗传咨询提供了依据。

Objective To explore the genetic basis for a patient with Dilated cardiomyopathy.Methods 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).Results 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).Conclusion The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient,which has provided a basis for genetic counseling for his family.