Analisis Mutasi Gen PAX9 dan MSX1 dengan Agenesis Gigi Nonsindromik

Abstract

Background: Tooth agenesis is the congenital absence of tooth buds. Nonsyndromic tooth agenesis is the most commonly encountered form. This abnormal condition can affect tooth development and aesthetic function. The cause of agenesis is suspected to be influenced by genetic and environmental factors, with genetics being the primary cause. PAX9 and MSX1 genes are the most frequently discussed and identified in subjects with nonsyndromic tooth agenesis. Based on previous research, mutations in PAX9 and MSX1 genes can lead to nonsyndromic tooth agenesis. Aim: This study aims to analyze mutations in PAX9 and MSX1 genes and their implications on nonsyndromic tooth agenesis. Methods: This study uses 26 blood samples from nonsyndromic tooth agenesis subjects. The blood samples were extracted to isolate the DNA which were subsequently sent to the Faculty of Dentistry, Chulalongkorn University, for sequencing. Demographic data analysis was performed using SPSS software. Frequency and percentage were calculated for categorical data, while mean, median, and mode were used for numerical data. Results: Blood collection was performed on only 13 subjects with tooth agenesis, and sequencing was conducted on only 4 subjects due to the limited number of dental agenesis patients and time constraints. The results showed that only the third sample had a mutation variant in the PAX9 gene with a significant amino acid change. The other three samples showed the presence of mutation variants in the PAX9 and MSX1 genes, with a less significant impact on gene function. Conclusion: There are variant of uncertain significance (VUS) in the PAX9 gene, and various impact variants found in the MSX1 gene.