PDF(Pubmed)
Abstract：
UNASSIGNED: Patent foramen ovale (PFO) has a genetic predisposition and is closely associated with cryptogenic stroke (CS), migraine, decompression sickness, and hypoxemia. Identifying PFO-related mutant genes through whole-exome sequencing (WES) can help in the early recognition of cardiovascular genetic risk factors, guide timely clinical intervention, and reduce the occurrence of cardiovascular events.
UNASSIGNED: We analyzed mutant genes from ClinVar and OMIM databases. WES was performed on 25 PFO patients from Zhejiang Provincial Hospital of Chinese Medicine. Pathogenicity of variants was evaluated using American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology. (AMP) guidelines.
UNASSIGNED: In ClinVar (4 Feb 2023), 113 coding gene mutations were found, including 83 associated with PFO. From OMIM (18 Apr 2023), 184 gene mutations were analyzed, with 110 mutant coding genes. WES identified pathogenic mutations in two of 25 PFO patients (8%). LDLR, SDHC, and NKX2-5 genes were linked to PFO and primarily involved in myocardial tissue function. NKX2-5 may play a crucial role in PFO development, interacting with NOTCH1, GATA4, MYH6, SCN5A signaling pathways regulating cardiomyocyte characteristics.
UNASSIGNED: We identified pathogenic mutations in LDLR, SDHC, and NKX2-5 genes, implying their role in PFO development. Functional enrichment analysis revealed NKX2-5\'s interaction with signaling pathways regulating cardiomyocyte function. These findings enhance our understanding of PFO\'s genetic basis, suggesting potential therapeutic targets for future research.
UNASSIGNED: We analyzed mutant genes from ClinVar and OMIM databases. WES was performed on 25 PFO patients from Zhejiang Provincial Hospital of Chinese Medicine. Pathogenicity of variants was evaluated using American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology. (AMP) guidelines.
UNASSIGNED: In ClinVar (4 Feb 2023), 113 coding gene mutations were found, including 83 associated with PFO. From OMIM (18 Apr 2023), 184 gene mutations were analyzed, with 110 mutant coding genes. WES identified pathogenic mutations in two of 25 PFO patients (8%). LDLR, SDHC, and NKX2-5 genes were linked to PFO and primarily involved in myocardial tissue function. NKX2-5 may play a crucial role in PFO development, interacting with NOTCH1, GATA4, MYH6, SCN5A signaling pathways regulating cardiomyocyte characteristics.
UNASSIGNED: We identified pathogenic mutations in LDLR, SDHC, and NKX2-5 genes, implying their role in PFO development. Functional enrichment analysis revealed NKX2-5\'s interaction with signaling pathways regulating cardiomyocyte function. These findings enhance our understanding of PFO\'s genetic basis, suggesting potential therapeutic targets for future research.
摘要：
■卵圆孔未闭（PFO）具有遗传易感性，与隐源性中风（CS）密切相关，偏头痛,减压病,和低氧血症。通过全外显子组测序（WES）鉴定PFO相关突变基因有助于早期识别心血管遗传危险因素。及时指导临床干预,减少心血管事件的发生。
■我们分析了ClinVar和OMIM数据库中的突变基因。对浙江省中医院25例PFO患者进行了WES。使用美国医学遗传学和基因组学学院（ACMG）和分子病理学协会评估变体的致病性。（AMP）指南。
■在ClinVar（2023年2月4日），发现113个编码基因突变，包括与PFO相关的83个。来自OMIM（2023年4月18日），分析了184个基因突变，有110个突变编码基因。WES在25例PFO患者中的2例(8%)中鉴定出致病性突变。LDLR,SDHC,NKX2-5基因与PFO相关，主要参与心肌组织功能。NKX2-5可能在PFO发育中起关键作用，与NOTCH1、GATA4、MYH6、SCN5A信号通路相互作用调节心肌细胞特性。
■我们确定了LDLR的致病性突变，SDHC,和NKX2-5基因，暗示他们在PFO发展中的作用。功能富集分析揭示了NKX2-5与调节心肌细胞功能的信号通路的相互作用。这些发现增强了我们对PFO的遗传基础的理解，为未来的研究提出潜在的治疗目标。
■我们分析了ClinVar和OMIM数据库中的突变基因。对浙江省中医院25例PFO患者进行了WES。使用美国医学遗传学和基因组学学院（ACMG）和分子病理学协会评估变体的致病性。（AMP）指南。
■在ClinVar（2023年2月4日），发现113个编码基因突变，包括与PFO相关的83个。来自OMIM（2023年4月18日），分析了184个基因突变，有110个突变编码基因。WES在25例PFO患者中的2例(8%)中鉴定出致病性突变。LDLR,SDHC,NKX2-5基因与PFO相关，主要参与心肌组织功能。NKX2-5可能在PFO发育中起关键作用，与NOTCH1、GATA4、MYH6、SCN5A信号通路相互作用调节心肌细胞特性。
■我们确定了LDLR的致病性突变，SDHC,和NKX2-5基因，暗示他们在PFO发展中的作用。功能富集分析揭示了NKX2-5与调节心肌细胞功能的信号通路的相互作用。这些发现增强了我们对PFO的遗传基础的理解，为未来的研究提出潜在的治疗目标。
