Estudio genético de una familia chilena con tres fenotipos dentales diferentes

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 de...

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Autores principales:	Andrea Pardo V,Rosa, Castillo T,Silvia, R Vieira,Alexandre
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2006
Materias:	DSPP protein, human Genes, developmental IRF6 protein, human MSX1 protein, human
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200008
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spelling	oai:scielo:S0034-988720060012000082007-01-24Estudio genético de una familia chilena con tres fenotipos dentales diferentesAndrea Pardo V,RosaCastillo T,SilviaR Vieira,Alexandre DSPP protein, human Genes, developmental IRF6 protein, human MSX1 protein, human 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 individualsinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.134 n.12 20062006-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200008es10.4067/S0034-98872006001200008
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	DSPP protein, human Genes, developmental IRF6 protein, human MSX1 protein, human
spellingShingle	DSPP protein, human Genes, developmental IRF6 protein, human MSX1 protein, human Andrea Pardo V,Rosa Castillo T,Silvia R Vieira,Alexandre Estudio genético de una familia chilena con tres fenotipos dentales diferentes
description	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
author	Andrea Pardo V,Rosa Castillo T,Silvia R Vieira,Alexandre
author_facet	Andrea Pardo V,Rosa Castillo T,Silvia R Vieira,Alexandre
author_sort	Andrea Pardo V,Rosa
title	Estudio genético de una familia chilena con tres fenotipos dentales diferentes
title_short	Estudio genético de una familia chilena con tres fenotipos dentales diferentes
title_full	Estudio genético de una familia chilena con tres fenotipos dentales diferentes
title_fullStr	Estudio genético de una familia chilena con tres fenotipos dentales diferentes
title_full_unstemmed	Estudio genético de una familia chilena con tres fenotipos dentales diferentes
title_sort	estudio genético de una familia chilena con tres fenotipos dentales diferentes
publisher	Sociedad Médica de Santiago
publishDate	2006
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001200008
work_keys_str_mv	AT andreapardovrosa estudiogeneticodeunafamiliachilenacontresfenotiposdentalesdiferentes AT castillotsilvia estudiogeneticodeunafamiliachilenacontresfenotiposdentalesdiferentes AT rvieiraalexandre estudiogeneticodeunafamiliachilenacontresfenotiposdentalesdiferentes
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Estudio genético de una familia chilena con tres fenotipos dentales diferentes

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