Indian Journal of Dentistry · 2014 · 17 citations · 78 references
DentistryGeneticsOral BiologyDental Dna AnalysisHuman GeneticsMedical GeneticsCongenital Oral AnomaliesDental AnatomyDental MorphologyDevelopmental Dental AnomaliesTooth LossCongenital Missing TeethCongenitally Missing TeethDental AbnormalitiesDevelopmental Dental DefectsHereditary Dental DisordersMsx1 Gene FunctionMsx1 VariantsTooth Development 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.
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A human MSX1 homeodomain missense mutation causes selective tooth agenesis
Heleni Vastardis, Nadeem Y. Karimbux, Symon W. Guthua et al. · Nature Genetics · 1996 · 723 citations
Mutation of PAX9 is associated with oligodontia
David W. Stockton, Parimal Das, Monica Goldenberg et al. · Nature Genetics · 2000 · 528 citations