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    Pathogenic TP53 variants in Li-Fraumeni Syndrome can cause congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD). This reveals a new developmental role for p53 in urogenital development.

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    Area of Science:

    • Genetics and Developmental Biology
    • Cancer Predisposition Syndromes
    • Human Embryology

    Background:

    • Li-Fraumeni Syndrome (LFS) is an inherited cancer predisposition disorder caused by TP53 mutations.
    • The role of p53 in embryonic development, particularly kidney and urinary tract formation, is not well understood.
    • The contribution of p53 to human congenital anomalies is undefined.

    Purpose of the Study:

    • To investigate if pathogenic TP53 variants cause congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in LFS patients.
    • To explore the developmental role of TP53 in kidney morphogenesis.
    • To expand the known phenotypic spectrum of LFS.

    Main Methods:

    • Analysis of 28 unrelated TP53 mutation carriers for CAKUT and GD.
    • In silico modeling (AlphaFold) of TP53 variants R242W and R282W.
    • Expression of wild-type and mutant TP53 in Xenopus laevis embryos to study kidney development.

    Main Results:

    • 28% of TP53 mutation carriers exhibited CAKUT and/or GD.
    • Structurally disruptive or dominant-negative TP53 mutations were more frequent in affected individuals.
    • TP53 is expressed in developing nephric structures in Xenopus, and mutant TP53 disrupted kidney morphogenesis in vivo.

    Conclusions:

    • Pathogenic TP53 variants contribute to renal and urogenital defects in Li-Fraumeni Syndrome.
    • This study identifies a novel developmental role for p53 in urogenital formation.
    • The findings expand the phenotypic spectrum of LFS beyond cancer predisposition.