Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.

ABSTRACT:

Background

Variants in the AXIN2 gene are associated with colorectal cancer, oligodontia-colorectal cancer syndrome, and isolated tooth agenesis. To date, only 19 AXIN2 variants have been linked to tooth agenesis. This study aimed to identify novel AXIN2 variants in individuals with isolated tooth agenesis, evaluate their pathogenicity, and summarize possible patterns of AXIN2-associated tooth agenesis through a systematic literature review.

Methods

Whole-exome sequencing (WES) was performed to detect AXIN2 variants in individuals with isolated tooth agenesis. AXIN2 cDNA clone sequencing and mRNA expression analysis were performed using peripheral blood mononuclear cells (PBMCs) from carriers. Pathogenicity of the identified variants was evaluated through bioinformatic analy

SUBMITTER: Geng C 

PROVIDER: S-EPMC12683784 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature