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- W4290705662 startingPage "1917" @default.
- W4290705662 abstract "Congenital heart disease (CHD) is the most frequent kind of birth deformity in human beings and the leading cause of neonatal mortality worldwide. Although genetic etiologies encompassing aneuploidy, copy number variations, and mutations in over 100 genes have been uncovered to be involved in the pathogenesis of CHD, the genetic components predisposing to CHD in most cases remain unclear. We recruited a family with CHD from the Chinese Han population in the present investigation. Through whole-exome sequencing analysis of selected family members, a new SOX18 variation, namely NM_018419.3:c.349A>T; p.(Lys117*), was identified and confirmed to co-segregate with the CHD phenotype in the entire family by Sanger sequencing analysis. The heterozygous variant was absent from the 384 healthy volunteers enlisted as control individuals. Functional exploration via luciferase reporter analysis in cultivated HeLa cells revealed that Lys117*-mutant SOX18 lost transactivation on its target genes NR2F2 and GATA4, two genes responsible for CHD. Moreover, the genetic variation terminated the synergistic activation between SOX18 and NKX2.5, another gene accountable for CHD. The findings strongly indicate SOX18 as a novel gene contributing to CHD, which helps address challenges in the clinical genetic diagnosis and prenatal prophylaxis of CHD." @default.
- W4290705662 created "2022-08-09" @default.
- W4290705662 creator A5009916106 @default.
- W4290705662 creator A5022801684 @default.
- W4290705662 creator A5036484497 @default.
- W4290705662 creator A5037537662 @default.
- W4290705662 creator A5037886261 @default.
- W4290705662 creator A5039874845 @default.
- W4290705662 creator A5083417086 @default.
- W4290705662 creator A5087388855 @default.
- W4290705662 date "2022-08-08" @default.
- W4290705662 modified "2023-09-25" @default.
- W4290705662 title "Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease" @default.
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