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• W3152188212 endingPage "104211" @default.
• W3152188212 startingPage "104211" @default.
• W3152188212 abstract "Abstract As the most prevalent form of human birth defect, congenital heart disease (CHD) contributes to substantial morbidity, mortality and socioeconomic burden worldwide. Aggregating evidence has convincingly demonstrated that genetic defects exert a pivotal role in the pathogenesis of CHD, and causative mutations in multiple genes have been causally linked to CHD. Nevertheless, CHD is of pronounced genetic heterogeneity, and the genetic components underpinning CHD in the overwhelming majority of patients remain obscure. In this research, a four-generation consanguineous family suffering from CHD transmitted in an autosomal dominant mode was recruited. By whole-exome sequencing and bioinformatics analyses as well as Sanger sequencing analyses of the family members, a new heterozygous SOX17 variation, NM_022454.4: c.553G > T; p.(Glu185*), was identified to co-segregate with CHD in the family, with complete penetrance. The nonsense variation was neither detected in 310 unrelated healthy volunteers used as controls nor retrieved in such population genetics databases as the Exome Aggregation Consortium database, Genome Aggregation Database, and the Single Nucleotide Polymorphism database. Functional assays by utilizing a dual-luciferase reporter assay system unveiled that the Glu185*-mutant SOX17 protein had no transcriptional activity on its two target genes NOTCH1 and GATA4, which have been reported to cause CHD. Furthermore, the mutation abrogated the synergistic transactivation between SOX17 and NKX2.5, another established CHD-causing transcription factor. These findings firstly indicate SOX17 loss-of-function mutation predisposes to familial CHD, which adds novel insight to the molecular mechanism of CHD, implying potential implications for genetic risk appraisal and individualized prophylaxis of the family members affected with CHD." @default.
• W3152188212 created "2021-04-13" @default.
• W3152188212 creator A5009916106 @default.
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• W3152188212 creator A5067617329 @default.
• W3152188212 creator A5087388855 @default.
• W3152188212 date "2021-05-01" @default.
• W3152188212 modified "2023-09-24" @default.
• W3152188212 title "SOX17 loss-of-function variation underlying familial congenital heart disease" @default.
• W3152188212 cites W1985975570 @default.
• W3152188212 cites W1989457690 @default.
• W3152188212 cites W2018043765 @default.
• W3152188212 cites W2024200940 @default.
• W3152188212 cites W2024424388 @default.
• W3152188212 cites W2040339824 @default.
• W3152188212 cites W2040686597 @default.
• W3152188212 cites W2054913890 @default.
• W3152188212 cites W2074189902 @default.
• W3152188212 cites W2083134643 @default.
• W3152188212 cites W2118072878 @default.
• W3152188212 cites W2125216530 @default.
• W3152188212 cites W2143290124 @default.
• W3152188212 cites W2186150902 @default.
• W3152188212 cites W2417392191 @default.
• W3152188212 cites W2478946756 @default.
• W3152188212 cites W2517885349 @default.
• W3152188212 cites W2595040062 @default.
• W3152188212 cites W2625982705 @default.
• W3152188212 cites W2790112231 @default.
• W3152188212 cites W2803215142 @default.
• W3152188212 cites W2804107187 @default.
• W3152188212 cites W2807852901 @default.
• W3152188212 cites W2884058165 @default.
• W3152188212 cites W2884920459 @default.
• W3152188212 cites W2884987608 @default.
• W3152188212 cites W2891748899 @default.
• W3152188212 cites W2893977428 @default.
• W3152188212 cites W2894934289 @default.
• W3152188212 cites W2895323567 @default.
• W3152188212 cites W2897024426 @default.
• W3152188212 cites W2899022921 @default.
• W3152188212 cites W2899789951 @default.
• W3152188212 cites W2901940932 @default.
• W3152188212 cites W2903537967 @default.
• W3152188212 cites W2904729647 @default.
• W3152188212 cites W2905661565 @default.
• W3152188212 cites W2906316045 @default.
• W3152188212 cites W2910114271 @default.
• W3152188212 cites W2911080522 @default.
• W3152188212 cites W2912412318 @default.
• W3152188212 cites W2912812514 @default.
• W3152188212 cites W2914704739 @default.
• W3152188212 cites W2918288117 @default.
• W3152188212 cites W2941381784 @default.
• W3152188212 cites W2952963882 @default.
• W3152188212 cites W2953082159 @default.
• W3152188212 cites W2953281605 @default.
• W3152188212 cites W2958913723 @default.
• W3152188212 cites W2963840398 @default.
• W3152188212 cites W2965717552 @default.
• W3152188212 cites W2967311207 @default.
• W3152188212 cites W2972302806 @default.
• W3152188212 cites W2975192145 @default.
• W3152188212 cites W2980720289 @default.
• W3152188212 cites W2982086200 @default.
• W3152188212 cites W2984297742 @default.
• W3152188212 cites W2993937423 @default.
• W3152188212 cites W2994846084 @default.
• W3152188212 cites W2995413643 @default.
• W3152188212 cites W2996045712 @default.
• W3152188212 cites W2996834101 @default.
• W3152188212 cites W2997269993 @default.
• W3152188212 cites W2998025144 @default.
• W3152188212 cites W2999375539 @default.
• W3152188212 cites W2999464124 @default.
• W3152188212 cites W3000767297 @default.
• W3152188212 cites W3002541302 @default.
• W3152188212 cites W3005185531 @default.
• W3152188212 cites W3007590805 @default.
• W3152188212 cites W3012401105 @default.
• W3152188212 cites W3014730820 @default.
• W3152188212 cites W3015334365 @default.
• W3152188212 cites W3021857778 @default.
• W3152188212 cites W3024440673 @default.
• W3152188212 cites W3025072872 @default.
• W3152188212 cites W3033845461 @default.
• W3152188212 cites W3035448569 @default.
• W3152188212 cites W3037530452 @default.
• W3152188212 cites W3039982070 @default.
• W3152188212 cites W3040166618 @default.
• W3152188212 cites W3041458480 @default.
• W3152188212 cites W3041491900 @default.
• W3152188212 cites W3046150375 @default.

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