Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene.
10.3760/cma.j.cn511374-20220606-00383
- Author:
Yanlong REN
1
;
Yahui ZHANG
;
Xiaoping ZHANG
;
Yueli WANG
;
Xuxia LIU
;
Jin SHENG
;
Shangqiu NING
;
Wenxian LIU
;
Xiaoyan LI
Author Information
1. Department of Cardiology, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China. xiaoyanli82@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Cardiomyopathy, Dilated/genetics*;
Genetic Testing;
Genetic Counseling;
Computational Biology;
Frameshift Mutation;
Mutation;
Filamins
- From:
Chinese Journal of Medical Genetics
2023;40(12):1551-1555
- CountryChina
- Language:Chinese
-
Abstract:
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 the genetic counseling for his family.
