September 10, 2025Open Access

Li-Fraumeni Syndrome-Associated p53 Variants Disrupt Kidney and Urinary Tract Development

View Full Paper

Ask AI

Bookmark

Pathogenic tp53 variants disrupt kidney and urinary tract development in individuals with li-fraumeni syndrome.
Among 28 unrelated mutation carriers, 28% exhibited congenital anomalies of the kidney and urinary tract.
Using xenopus laevis, mutant tp53 mRNA disrupted kidney morphogenesis, supporting a developmental loss-of-function effect.
Findings expand the phenotypic spectrum of li-fraumeni syndrome, revealing unrecognized roles for p53 in embryonic development.

Discussion

No takes yet. Share an insight, caveat, or question.

Observational analysis reveals pathogenic tp53 variants cause congenital anomalies in kidney and urinary tract, suggesting a role in development.

Romero et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark

Observational analysis reveals pathogenic tp53 variants cause congenital anomalies in kidney and urinary tract, suggesting a role in development.