气候变化领域集成服务门户(CCPortal): Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing

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DOI	10.1016/j.jss.2023.12.004
	Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing
	Zhang, Xiaohui; Zhen, Da; Yi, Faling; Zhang, Tianyi; Li, Xuemei; Wang, Yuhe; Li, Xuguang; Sheng, Yemeng; Liu, Xiaoli; Jin, Tianbo; He, Yongjun
发表日期	2024
ISSN	0022-4804
EISSN	1095-8673
起始页码	18
结束页码	28
卷号	296
英文摘要	Introduction: Ventricular septal defect (VSD) is the most common congenital heart malformation in children. This study aimed to investigate potential pathogenic genes associated with Tibetan familial VSD. Methods: Whole genomic DNA was extracted from eight Tibetan children with VSD and their healthy parents (a total of 16 individuals). Whole-exome sequencing was performed using the Illumina HiSeq platform. After filtration, detection, and annotation, single nucleotide variations and insertion -deletion markers were examined. Comparative evaluations using the Sorting Intolerant from Tolerant, PolyPhen V2, Mutation Taster, and Combined Annotation Dependent Depletion databases were conducted to predict harmful mutant genes associated with the etiology of Tibetan familial VSD. Results: A total of six missense mutations in genetic disease -causing genes associated with the development of Tibetan familial VSD were identified: activin A receptor type II -like 1 (c.652 C > T: p.R218 W), ATPase cation transporting 13A2 (c.1363 C > T: p.R455 W), endoplasmic reticulum aminopeptidase 1 (c.481 G > A: p.G161 R), MRI1 (c.629 G > A: p.R210Q), tumor necrosis factor receptor -associated protein 1 (c.224 G > A: p.R75H), and FBN2 (c.2260 G > A: p.G754S). The Human Gene Mutation Database confirmed activin A receptor type II -like 1, MRI1, and tumor necrosis factor receptor -associated protein 1 as pathogenic mutations, while FBN2 was classified as a probable pathogenic mutation. Conclusions: This novel study directly screens genetic variations associated with Tibetan familial VSD using whole-exome sequencing, providing new insights into the pathogenesis of VSD. (c) 2023 Published by Elsevier Inc.
关键词	Familial Tibetan population Ventricular septal defect Whole exome sequencing
英文关键词	MRI1
WOS研究方向	Surgery
WOS记录号	WOS:001164690900001
来源期刊	JOURNAL OF SURGICAL RESEARCH
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/283844
作者单位	Xizang Minzu University; Xizang Minzu University; Xizang Minzu University; Xizang Minzu University; Xizang Minzu University
推荐引用方式 GB/T 7714	Zhang, Xiaohui,Zhen, Da,Yi, Faling,et al. Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing[J],2024,296.
APA	Zhang, Xiaohui.,Zhen, Da.,Yi, Faling.,Zhang, Tianyi.,Li, Xuemei.,...&He, Yongjun.(2024).Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing.JOURNAL OF SURGICAL RESEARCH,296.
MLA	Zhang, Xiaohui,et al."Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing".JOURNAL OF SURGICAL RESEARCH 296(2024).