Clinical Genetics
Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene
Ren Yanlong, Zhang Yahui, Zhang Xiaoping, Wang Yueli, Liu Xuxia, Sheng Jin, Ning Shangqiu, Liu Wenxian, Li Xiaoyan
Published 2023-12-10
Cite as Chin J Med Genet, 2023, 40(12): 1551-1555. DOI: 10.3760/cma.j.cn511374-20220606-00383
Abstract
ObjectiveTo explore the genetic basis for a patient with Dilated cardiomyopathy.
MethodsA 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).
ResultsDNA 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).
ConclusionThe 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.
Key words:
Dilated cardiomyopathy; FLNC gene; Genetic testing
Contributor Information
Ren Yanlong
Department of Cardiology, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
Zhang Yahui
Department of Critical Medicine, Beijing Haidian Hospital, Beijing 100080, China
Zhang Xiaoping
Beijing Institute of Heart, Lung and Blood Vessel Diseases, Key Laboratory of Remodeling-related Cardiovascular Disease of the Ministry of Education, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
Wang Yueli
Department of Echocardiography, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
Liu Xuxia
Beijing Institute of Heart, Lung and Blood Vessel Diseases, Key Laboratory of Remodeling-related Cardiovascular Disease of the Ministry of Education, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
Sheng Jin
Department of Cardiology, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
Ning Shangqiu
Department of Cardiology, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
Liu Wenxian
Department of Cardiology, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
Li Xiaoyan
Beijing Institute of Heart, Lung and Blood Vessel Diseases, Key Laboratory of Remodeling-related Cardiovascular Disease of the Ministry of Education, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China
