期刊
BMC MEDICAL GENOMICS
卷 15, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s12920-022-01388-5
关键词
Dilated cardiomyopathy; Genetic; FBXO32; Whole-exome sequencing; Variant
资金
- Cardiogenetics Research Center, Rajaie Cardiovascular Medical and Research Center, Tehran, Iran
- Department of Biology, the Science and Research Branch, Islamic Azad University, Tehran, Iran
This study identified a variant in the FBXO32 gene that is associated with recessive DCM. This variant may disrupt the degradation of target proteins in the ubiquitin-proteasome system, leading to DCM.
Background Familial dilated cardiomyopathy (DCM) is a genetic heart disorder characterized by progressive heart failure and sudden cardiac death. Over 250 genes have been reported in association with DCM; nonetheless, the genetic cause of most DCM patients has been unknown. The goal of the present study was to determine the genetic etiology of familial DCM in an Iranian family. Methods Whole-exome sequencing was performed to identify the underlying variants in an Iranian consanguineous family with DCM. The presence of the candidate variant was confirmed and screened in available relatives by PCR and Sanger sequencing. The pathogenic effect of the candidate variant was assessed by bioinformatics analysis, homology modeling, and docking. Results One novel likely pathogenic deletion, c.884_886del: p.Lys295del, in F-box only protein 32 (muscle-specific ubiquitin-E3 ligase protein; FBXO32) was identified. Based on bioinformatics and modeling analysis, c.884_886del was the most probable cause of DCM in the studied family. Conclusions Our findings indicate that variants in FBXO32 play a role in recessive DCM. Variants in FBXO32 may disturb the degradation of target proteins in the ubiquitin-proteasome system and lead to severe DCM. We suggest considering this gene variants in patients with recessively inherited DCM.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据