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A mutation update for the FLNC FLNC gene in myopathies and cardiomyopathies

机译：肌病和心肌病的FLNC FLNC基因的突变更新

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摘要

Abstract Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high‐throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolated hypertrophic and dilated cardiomyopathies (HCM and DCM). FLNC variants are now among the more prevalent causes of genetic DCM. FLNC‐associated DCM is associated with a malignant clinical course and a high risk of sudden cardiac death. The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene. The appropriate functioning of FLNC is crucial for structural integrity and cell signaling of the sarcomere. The secondary protein structure of FLNC is critical to ensure this function. Truncating variants with subsequent haploinsufficiency are associated with DCM and cardiac arrhythmias. Interference with the dimerization and folding of the protein leads to aggregate formation detrimental for muscle function, as found in HCM and MFM. Variants associated with HCM are predominantly missense variants, which cluster in the ROD2 domain. This domain is important for binding to the sarcomere and to ensure appropriate cell signaling. We here review FLNC genotype–phenotype correlations based on available evidence.
机译：摘要菲素C（FLNC）变体与心脏和肌肉表型相关。最初，在Myofibrillar肌病（MFM）患者中描述了FLNC变体。后来，心肌病队列中的高通量筛选确定了FLNC在孤立的肥厚和扩张的心肌病（HCM和DCM）中的突出作用。 FLNC变体现在是遗传DCM的更普遍性的原因之一。 FLNC相关的DCM与恶性临床课程相关，突然心脏死亡风险很高。 FLNC的临床频谱表明与基因中的变体类型及其位置相关的不同的土地机制。 FLNC的适当功能对于SARCARERE的结构完整性和细胞信号传导至关重要。 FLNC的二次蛋白质结构至关重要，确保这种功能。具有随后的单舱足为的截断变体与DCM和心脏心律失常相关。干扰蛋白质的二聚化和折叠导致聚集体形成对肌肉功能有害，如HCM和MFM中所发现的。与HCM相关的变体主要是官方畸变变体，在罗德2结构域中簇。该域对于绑定到SARCORE，这个域很重要，并确保适当的小区信令。我们在这里审查了基于可用证据的FLNC基因型 - 表型相关性。

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