Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy.Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in ...
目的 探究汉族心肌病患者细丝蛋白C(filamin C,FLNC)基因变异及表型特点,进一步完善FLNC变异谱.方法 纳入150名肥厚型心肌病(hypertrophic cardiomyopathy,HCM)和50名扩张型心肌病(dilated cardiomyopathy,DCM)患者,进行外周血DNA全外显子组测序,并对测序结果进行分析和筛选,对携带FLNC基因变异的先证者及家属...
Objective: To describe a case of camptocormia and cardiomyopathy with an intronic mutation of the FLNC gene.Background: Filamin C (FLNC) mutations have been reported in cardiomyopathies, skeletal myopathies, and sudden cardiac death. While FLNC mutations have various clinical presentations, camp...
FLNC mutation, hypertrophic cardiomyopathy, penetrance, prognosisBackgroundFilamin C (FLNC) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be ...
7-year follow-up of a patient with FLNC gene mutation-related cardiomyopathy: A case reportdoi:10.1016/j.jocmr.2024.101757Isabela B. Bispo MD, PhDBruno S. Rangel MDAntonio Tito Paladino Filho MD, PhDBruno N. Colombo MDThamara C. Morais MD...
Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and ...
restrictive cardiomyopathy, atrial fibrillation, mutation, stem cellBackgroundRestrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported and mutations underlying RCM...
MISSENSE mutationGENETIC mutationGENETIC disordersRestrictive cardiomyopathy (RCM) is a heterogenous cardiomyopathy with various causes, and genetic variants take an important part of the pathogenesis. Whole-exome sequencing (WES) is effective to discover genes that cause genetic diseases. By...
cardiomyocytes to explore FLNC genotype-interactome relationships using affinity purification mass spectrometry.Methods: An iPSC line was generated from a patient with restrictive cardiomyopathy caused by an insertion deletion mutation in the ROD2 domain FLNC (c.7416_7418delGAA, p.Glu2472_Asn2473delin...
HYPERTROPHIC cardiomyopathyHEART ventriclesThe article discusses the identification of a missense mutation in the FLNC gene from a Chinese family with Restrictive Cardiomyopathy. The study utilized whole-exome sequencing and Sanger sequencing methods to identify pathogenic genes. The findings suggest that ...