Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing.
J Surg Res
; 296: 18-28, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38215673
ABSTRACT
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.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Cardiopatias Congênitas
/
Comunicação Interventricular
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Surg Res
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China