Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.

ABSTRACT:

Objectives

This study aimed to identify genetic variants associated with non-syndromic tooth agenesis (TA) in nine families from Mongolia using whole-exome sequencing (WES) and bioinformatics analysis.

Material and methods

The study enrolled 41 participants, including three inherited and six non-inherited families. WES analysis was performed on 14 saliva samples from individuals with non-syndromic TA. The potential candidate genes were identified through variant filtering and segregation analysis. The filtered variants were then analyzed in silico mutation impact analysis.

Results

WES analysis identified 21 variants associated with TA, and 5 of these variants met all filtering criteria. These variants were located in the exome region of MAST4, ITGA6, PITX2, CACNA1S, a

SUBMITTER: Semjid D 

PROVIDER: S-EPMC10756872 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature