[Genetic studies of a Chilean family with three different dental anomalies].

[dentin dysplasia]

Congenital dental anomalies can affect up to 25 % of the population .To report the genetic study of a family with dental anomalies .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 : IRF 6 , FGFR 1 , MSX 1 , MSX 2 , PAX 9 , PRDM 16 and TGFA . We also studied DSPP as a candidate gene for dentinal dysplasia type I .We did not find mutations in FGFR 1 , MSX 2 , PAX 9 , PRDM 16 , or TGFA . We found a MSX 1 mutation (G 16 D ) in both affected and unaffected family members . Also , we found a genetic variation not described before in IRF 6 in the dentinal dysplasia type I case .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 .

Diseases
Validation

Diseases presenting "mutations in fgfr1" symptom

dentin dysplasia

kallmann syndrome

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