genético, clínico y molecular de una familia afectada con una malformación del esmalte dental

Amelogenesis Imperfecta (AI) is a group of conditions where there is an abnormal formation of enamel in terms of quantity, structure and composition. AI is clinically and genetically heterogeneous, there are sex linked and autosomal versions, dominant and/or recessive, with phenotypes of hypoplastic...

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Autores principales:	Urzúa O,Blanca, Ortega P,Ana, Rodríguez M,Luis, Morales B,Irene
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2005
Materias:	Amelogenesis imperfecta Dental enamel hypoplasia Mutation
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005001100009
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spelling	oai:scielo:S0034-988720050011000092006-01-24genético, clínico y molecular de una familia afectada con una malformación del esmalte dentalUrzúa O,BlancaOrtega P,AnaRodríguez M,LuisMorales B,Irene Amelogenesis imperfecta Dental enamel hypoplasia Mutation Amelogenesis Imperfecta (AI) is a group of conditions where there is an abnormal formation of enamel in terms of quantity, structure and composition. AI is clinically and genetically heterogeneous, there are sex linked and autosomal versions, dominant and/or recessive, with phenotypes of hypoplastic, hypocalcified or hypomature enamel. Only recently, through clinical, genetic and molecular studies of affected families, phenotypic-genotypic correlations are being established in this group of anomalies. Aim: To carry out a genetic, clinical and molecular analysis of a Chilean family affected with an enamel malformation, which probably would correspond to Amelogenesis Imperfecta Dominant Autosomal (AIDA), of hypoplastic type, resulting from g.6395G>A mutation in the enamelin gene. Patients and Methods: A genealogical pattern was created for five generations. Five members of this family group were clinically examined, and four of them had a molecular analysis that consisted of the detection of a mutation in the enamelin gene using PCR. Results: In this family, the enamel malformation presents a dominant autosomal pattern of inheritance. The clinical examination of the group allowed a diagnosis of Amelogenesis Imperfecta, of the hypoplastic local type. However, the molecular analysis revealed that the members analyzed did not exhibit the g.6395G>A mutation reported for the enamelin gene (ENAM). Conclusions: The enamel phenotype in this family could be explained by the presence of one of four other mutations recently described in this or another gene, thereby supporting the findings of allelic heterogeneity reported in the literatureinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.133 n.11 20052005-11-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005001100009es10.4067/S0034-98872005001100009
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Amelogenesis imperfecta Dental enamel hypoplasia Mutation
spellingShingle	Amelogenesis imperfecta Dental enamel hypoplasia Mutation Urzúa O,Blanca Ortega P,Ana Rodríguez M,Luis Morales B,Irene genético, clínico y molecular de una familia afectada con una malformación del esmalte dental
description	Amelogenesis Imperfecta (AI) is a group of conditions where there is an abnormal formation of enamel in terms of quantity, structure and composition. AI is clinically and genetically heterogeneous, there are sex linked and autosomal versions, dominant and/or recessive, with phenotypes of hypoplastic, hypocalcified or hypomature enamel. Only recently, through clinical, genetic and molecular studies of affected families, phenotypic-genotypic correlations are being established in this group of anomalies. Aim: To carry out a genetic, clinical and molecular analysis of a Chilean family affected with an enamel malformation, which probably would correspond to Amelogenesis Imperfecta Dominant Autosomal (AIDA), of hypoplastic type, resulting from g.6395G>A mutation in the enamelin gene. Patients and Methods: A genealogical pattern was created for five generations. Five members of this family group were clinically examined, and four of them had a molecular analysis that consisted of the detection of a mutation in the enamelin gene using PCR. Results: In this family, the enamel malformation presents a dominant autosomal pattern of inheritance. The clinical examination of the group allowed a diagnosis of Amelogenesis Imperfecta, of the hypoplastic local type. However, the molecular analysis revealed that the members analyzed did not exhibit the g.6395G>A mutation reported for the enamelin gene (ENAM). Conclusions: The enamel phenotype in this family could be explained by the presence of one of four other mutations recently described in this or another gene, thereby supporting the findings of allelic heterogeneity reported in the literature
author	Urzúa O,Blanca Ortega P,Ana Rodríguez M,Luis Morales B,Irene
author_facet	Urzúa O,Blanca Ortega P,Ana Rodríguez M,Luis Morales B,Irene
author_sort	Urzúa O,Blanca
title	genético, clínico y molecular de una familia afectada con una malformación del esmalte dental
title_short	genético, clínico y molecular de una familia afectada con una malformación del esmalte dental
title_full	genético, clínico y molecular de una familia afectada con una malformación del esmalte dental
title_fullStr	genético, clínico y molecular de una familia afectada con una malformación del esmalte dental
title_full_unstemmed	genético, clínico y molecular de una familia afectada con una malformación del esmalte dental
title_sort	genético, clínico y molecular de una familia afectada con una malformación del esmalte dental
publisher	Sociedad Médica de Santiago
publishDate	2005
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005001100009
work_keys_str_mv	AT urzuaoblanca geneticoclinicoymoleculardeunafamiliaafectadaconunamalformaciondelesmaltedental AT ortegapana geneticoclinicoymoleculardeunafamiliaafectadaconunamalformaciondelesmaltedental AT rodriguezmluis geneticoclinicoymoleculardeunafamiliaafectadaconunamalformaciondelesmaltedental AT moralesbirene geneticoclinicoymoleculardeunafamiliaafectadaconunamalformaciondelesmaltedental
_version_	1718436232905621504

genético, clínico y molecular de una familia afectada con una malformación del esmalte dental

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