一个家族性扩张型心肌病家系致病基因的研究
Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy.
作者信息
Zhang Xin-Ru, Ren Hang, Yao Fang, Liu Yang, Song Chun-Li
机构信息
Department of Pharmacy, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China.
Department of Cardiovascular Medicine, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China.
出版信息
World J Clin Cases. 2023 Apr 16;11(11):2412-2422. doi: 10.12998/wjcc.v11.i11.2412.
BACKGROUND
Dilated cardiomyopathy (DCM) is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction. The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis, which can be very poor.
AIM
To identify pathogenic genes in DCM through pedigree analysis.
METHODS
Our research team identified a patient with DCM in the clinic. Through investigation, we found that the family of this patient has a typical DCM pedigree. High-throughput sequencing technology, next-generation sequencing, was used to sequence the whole exomes of seven samples in the pedigree.
RESULTS
A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered. The mutation was completely consistent with the clinical information for this DCM pedigree. Sanger sequencing was used to further verify the locus of the mutation in pedigree samples. These results were consistent with those of high-throughput sequencing.
CONCLUSIONS
ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.
背景
扩张型心肌病（DCM）是一种具有遗传异质性的心脏疾病，其特征为左心室扩张和收缩功能障碍。DCM患者中明显的显著遗传异质性导致疾病严重程度各异，并使总体预后复杂化，总体预后可能非常差。
目的
通过系谱分析鉴定DCM中的致病基因。
方法
我们的研究团队在临床中鉴定出一名DCM患者。通过调查，我们发现该患者的家族有一个典型的DCM系谱。使用高通量测序技术，即新一代测序，对系谱中的七个样本的全外显子组进行测序。
结果
发现了一种新的潜在致病基因突变——ANK2p.F3067L。该突变与该DCM系谱的临床信息完全一致。使用桑格测序法进一步验证系谱样本中突变的位点。这些结果与高通量测序结果一致。
结论
ANK2p.F3067L被认为是DCM中一种新的潜在致病基因突变。
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