Novel MSX1 Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis.

ABSTRACT:

Background

Tooth agenesis is the most frequently occurring genetic developmental anomaly in clinical dentistry. The MSX1 gene, essential for tooth development, has been associated with non-syndromic tooth agenesis. This study aims to identify novel MSX1 variants associated with this condition and to understand their impact on tooth development.

Methods

This study involved the genetic analysis of two children presenting with non-syndromic tooth agenesis. Conservation analysis and 3D structural modeling were conducted to assess the pathogenicity of these variants. Additionally, a review of 108 patients with known MSX1 variants was performed to identify patterns of tooth agenesis.

Results

We discovered two novel MSX1 variants, c.823 T>G and c.

SUBMITTER: Ding T 

PROVIDER: S-EPMC11674387 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature