Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies

AIM: To search for mutations on the MSX1 gene and to present a genetic basis for non-syndromic tooth agenesis in conjunction with dental anomalies in a Turkish population. MATERIALS AND METHODS: The patients included in this study were otherwise healthy, with ages ranging from seven to eighteen years. Eighty-two of them had one to six teeth missing (Group I) and 26 had more than six teeth missing (Group II), except for the third molars,. The missing teeth and dental anomalies were examined clinically and radiographically. The MSX1 gene was sequenced from the blood samples of patients who consented to the study. RESULTS: Mutations or polymorphisms on the MSX1 gene were identified in six patients. Taurodontism was seen in patients from both groups I and II. The nucleotide changes were identified by mutation screening. CONCLUSIONS: Performing family studies, screening other candidate genes, and investigation of interactions between genes will provide a basis for better analysis of tooth agenesis models and their association with other dental anomalies.