Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

doi:10.1126/sciadv.adt0836

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Article

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Science advances - 10 Oct 2025

Zhou Yan, Jiang Tao, Gao Jimiao, Zang Jie, Mo Xuming, Yue Shen, Cui Yiqiang, Wang Qiuye, Da Min, Xu Jing, Li Qingguo, Shen Bin, Dai Juncheng, Ma Hongxia, Jin Guangfu, Shen Hongbing, Wang Cheng, Gu Yayun, Lin Yuan, Hu Zhibin

Abstract excerpt

Tetralogy of Fallot (TOF), the most common severe cyanotic congenital heart disease, has unclear genetic causes. Through next-generation sequencing in 131 patients with nonsyndromic TOF, we identified an increased burden of rare deleterious variants in ciliary genes and cilium pathway and observed a multigenic inheritance pattern, with an odds ratio (OR) of 1.672 [95% confidence interval (CI), 1.120 to 2.547;...

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PMID: 41071877
DOI: 10.1126/sciadv.adt0836
PMCID: PMC12513439

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