[Genetic studies of a Chilean family with three different dental anomalies].
BACKGROUND
Congenital dental anomalies can affect up to 25% of the population.


OBJECTIVE
To report the genetic study of a family with dental anomalies.


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.
Pardo V
Rosa Andrea
RA
Unidad de Genética, Hospital Dr. Sótero del Río, Santiago, Chile.
Castillo T
Silvia
S
Vieira
Alexandre R
AR
D000848:Anodontia / Q000235:genetics*; D001641:Bicuspid / Q000002:abnormalities; D002677:Chile; D003805:Dentin Dysplasia / Q000235:genetics*; D005190:Family; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014096:Tooth, Supernumerary / Q000235:genetics*
D005819:Genetic Markers