Data/hora: 13/06/2024 21:41:58

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta	
Autores: 	Gutiérrez,Sandra; Torres,Diana; Briceño,Ignacio; Gómez,Ana Maria; Baquero,Eliana.	
Data: 	2012-01-01	
Ano: 	2012	
Palavras-chave: 	Amelogenesis imperfecta; ENAM gene; Hypocalcified; Hypoplasic; Phenotype.	
Resumo: 	In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI) that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype, two had the hypocalcified phenotype and one had the hypomaturative phenotype. Anterior open bite and mandibular retrognathism were the most frequent skeletal abnormalities in the families with ADAI. No mutations were found. These findings suggest that ADAI in these Colombian families was unrelated to previously described mutations in the ENAM gene. These results also indicate that other regions not included in this investigation, such as the promoter region, introns and other genes should be considered as potential ADAI candidates.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400003	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572012000400003	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.35 n.3 2012	
Fonte: 	info:eu-repo/semantics/openAccess