Molecular mechanisms of <i>TTC21B</i> gene mutations in nephronophthisis type 12 and genetic prevention through PGT.

ABSTRACT:

Objective

To elucidate the pathogenic mechanism of nephronophthisis type 12 (NPHP12) caused by compound heterozygous mutations in the TTC21B gene and to implement preimplantation genetic testing (PGT) for clinical prevention.

Methods

We retrospectively analyzed the clinical data of a pediatric proband with NPHP12. The impact of the identified TTC21B mutations (c.895T>C and c.1552T>C) on pre-mRNA splicing, protein structure, and stability was assessed using bioinformatics tools. Functional validation was performed through in vitro rescue experiments in renal podocytes, quantifying effects on cellular morphology, ciliogenesis, and ciliary length. For preimplantation genetic testing (PGT), SNP haplotype analysis was employed for embryo selection.

Results

SUBMITTER: Deng K 

PROVIDER: S-EPMC12688276 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature