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Estudio genético de una familia chilena con tres fenotipos dentales diferentes / Genetic studies of a Chilean family with three different dental anomalies
Andrea Pardo V., Rosa; Castillo T., Silvia; R. Vieira, Alexandre.
  • Andrea Pardo V., Rosa; Hospital Dr. Sótero del Río. Unidad de Genética. Santiago. CL
  • Castillo T., Silvia; Universidad de Chile. Hospital Clínico. Unidad de Cuidados Especiales Neonatales. Sección Genética. Santiago. CL
  • R. Vieira, Alexandre; University of Pittsburgh. School of Dental Medicine. Center for Dental and Craniofacial Genetics. Department of Oral Biology. Pittsburgh. US
Rev. méd. Chile ; 134(12): 1541-1548, dic. 2006. ilus, tab
Article in Spanish | LILACS | ID: lil-441433
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.
Subject(s)
Full text: Available Index: LILACS (Americas) Main subject: Tooth, Supernumerary / Dentin Dysplasia / Anodontia / Mutation Limits: Female / Humans / Male Country/Region as subject: South America / Chile Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2006 Type: Article / Project document Affiliation country: Chile / United States Institution/Affiliation country: Hospital Dr. Sótero del Río/CL / Universidad de Chile/CL / University of Pittsburgh/US

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Full text: Available Index: LILACS (Americas) Main subject: Tooth, Supernumerary / Dentin Dysplasia / Anodontia / Mutation Limits: Female / Humans / Male Country/Region as subject: South America / Chile Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2006 Type: Article / Project document Affiliation country: Chile / United States Institution/Affiliation country: Hospital Dr. Sótero del Río/CL / Universidad de Chile/CL / University of Pittsburgh/US