Molecular mechanisms of TTC21B gene mutations in nephronophthisis type 12 and genetic prevention through PGT

ObjectiveTo 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.MethodsWe retrospectively analyzed the clinical data of a pediatric proband...

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Principais autores:	Kai Deng, Jingjing Li, Xitao Hu, Huijuan Wei, Chenyi Wang, Qingqing Cheng, Yu Jiang, Liyi Cai, Di Tang, Guiju Cao, Xiaoyan Wang
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2025-11-01
Serija:	Frontiers in Genetics
Teme:	nephronophthisis type 12 TTC21B gene whole-exome sequencing variant of uncertain significance (VUS) PGT (preimplantation genetic testing) functional validation
Online dostop:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1710252/full
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