Estudio genético de una familia chilena con tres fenotipos dentales diferentes / Genetic studies of a Chilean family with three different dental anomalies

ABSTRACT

Background: Congenital dental anomalies can affect up to 25 percent of the population. Aim: To report the genetic study of a family with dental anomalies. Material and methods: We studied a Chilean family presenting with three independent dental phenotypes third molar agenesis, supernumerary teeth, and dentinal dysplasia type I. We searched for mutations in candidate genes proposed for tooth agenesis and supernumerary teeth IRF6, FGFR1, MSX1, MSX2, PAX9, PRDM16 and TGFA. We also studied DSPP as a candidate gene for dentinal dysplasia type I. Results: We did not find mutations in FGFR1, MSX2, PAX9, PRDM16, or TGFA. We found a MSX1 mutation (G16D) in both affected and unaffected family members. Also, we found a genetic variation not described before in IRF6 in the dentinal dysplasia type I case. Conclusions: Further investigation is necessary to evaluate if these variants are functional in nature. Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals.