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

Sci Adv. 2025 Oct 10;11(41):eadt0836. doi: 10.1126/sciadv.adt0836. Epub 2025 Oct 10.

Abstract

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; P = 0.0104] for more than two deleterious variants and a cumulative OR of 3.158 (95% CI, 1.381 to 6.371; P = 0.0038) for six variants. Functional validation in single- and double-heterozygous mouse models carrying these variants recapitulated TOF-like phenotypes and impaired normal cilia structure and function, particularly disrupting Hedgehog signaling in cardiomyocytes, and down-regulating key transcription factors Gata4 and Nkx2-5. Together, our study provides compelling evidence linking ciliary gene variants to a heightened risk of TOF in Han Chinese, offering valuable genetic insights into the etiology and pathogenesis of nonsyndromic TOF and supporting a multigenic inheritance model for the disease.

MeSH terms

  • Animals
  • Cilia* / genetics
  • Cilia* / metabolism
  • Disease Models, Animal
  • Female
  • GATA4 Transcription Factor / genetics
  • GATA4 Transcription Factor / metabolism
  • Genetic Predisposition to Disease*
  • Hedgehog Proteins / metabolism
  • High-Throughput Nucleotide Sequencing
  • Homeobox Protein Nkx-2.5 / genetics
  • Homeobox Protein Nkx-2.5 / metabolism
  • Humans
  • Loss of Function Mutation*
  • Male
  • Mice
  • Myocytes, Cardiac / metabolism
  • Phenotype
  • Signal Transduction
  • Tetralogy of Fallot* / genetics
  • Tetralogy of Fallot* / metabolism
  • Tetralogy of Fallot* / pathology

Substances

  • Homeobox Protein Nkx-2.5
  • GATA4 Transcription Factor
  • NKX2-5 protein, human
  • GATA4 protein, human
  • Hedgehog Proteins