Estudio genético de una familia chilena con tres fenotipos dentales diferentesReportar como inadecuado

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Background: Congenital dental anomalies can affect up to 25% 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.

Autor: Castillo Taucher, Silvia; - Pardo Vargas, Rosa; - Vieira, Alexandre R.; -



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