Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.
Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.
复制标题
临床外显子组测序表明，FLNC 变异有助于婴儿患者心肌病的早期诊断。
DOI：
10.21037/tp.2019.12.02
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发表时间：
2020-02
期刊：
影响因子：
--
通讯作者：
Huijun Wang
中科院分区：
文献类型：
--
作者：
Feifan Xiao;Qiufen Wei;Bingbing Wu;Xu Liu;Aiyao Mading;Lin Yang;Yan Li;Fang Liu;Xinnian Pan;Huijun Wang
背景
FLNC编码肌动蛋白结合蛋白，主要集中在骨骼肌和心肌中。在心肌病中发现了 FLNC 突变。迄今为止，关于 FLNC 心肌病的研究主要针对成人。调查心肌病儿科患者 FLNC 变异的研究有限。
方法
我们根据临床外显子组测序数据，总结了2016年5月至2019年5月复旦大学附属儿童医院分子医学中心携带FLNC罕见变异的患者。
结果
总共包括 5 名患有 FLNC 罕见变异的患者。其中，男性3人，女性2人。中位年龄为 3 个月（范围从 19 天到 30 个月）。 A1186V 是儿科心肌病患者中报道的已知致病变异（PMID：29858533），其他四种变异是新的。在这四种新变体中，存在一种剪接(c.2265+4del)和三种错义(p.R441I、p.C1639Y和p.A2648S)。两名患者（患者1和3）被诊断为限制性心肌病，两名患者（患者2和5）被诊断为扩张型心肌病，一名患者（患者4）被诊断为心律失常。
结论
迄今为止，所有五名患者均已存活。总之，临床外显子组测序鉴定出的FLNC罕见变异为婴儿心肌病的早期诊断提供了遗传证据。
Background
FLNC encodes actin-binding protein and is mainly concentrated in skeletal and cardiac muscle. Mutations in FLNC were found in cardiomyopathies. To date, studies on FLNC-cardiomyopathies have mainly been reported in adults. There are limited studies that have investigated FLNC variants in pediatric patients with cardiomyopathies.
Methods
We summarized the patients who carried rare variants of FLNC from May 2016 to May 2019 in the Center for Molecular Medicine, Children's Hospital of Fudan University, from clinical exome sequencing data.
Results
A total of 5 patients with FLNC rare variants were included. Of them, 3 were male and 2 were female. The median age was 3 months (range from 19 days to 30 months). A1186V was a known pathogenic variant reported in pediatric patients with cardiomyopathy (PMID: 29858533), and the other four variants were novel. In the four novel variants, there are one splicing (c.2265+4del) and three missense (p.R441I, p.C1639Y, and p.A2648S). Two patients (patients 1 and 3) were diagnosed with restrictive cardiomyopathy, two patients (patients 2 and 5) were diagnosed with dilated cardiomyopathy, and one patient (patient 4) was diagnosed with arrhythmia.
Conclusions
All five patients have survived to date. In summary, FLNC rare variants identified by clinical exome sequencing provide genetic evidence to make early diagnosis of cardiomyopathy in infant patients.
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影响因子：
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通讯作者：
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