title: Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.
abstract: Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.
authors.affiliation: Department of Morphology, Dental School of Piracicaba, State University of Campinas, Piracicaba, SP, Brazil. mariacristina@fop.unicamp.br
authors.forename: Maria C L G
authors.initials: MC
authors.lastname: Santos
authors.forename: P Suzanne
authors.initials: PS
authors.lastname: Hart
authors.forename: Mukundhan
authors.initials: M
authors.lastname: Ramaswami
authors.forename: Cláudia M
authors.initials: CM
authors.lastname: Kanno
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Hart
authors.forename: Sergio R P
authors.initials: SR
authors.lastname: Line
mesh_terms: D000566:Amelogenesis / Q000235:genetics*; D000567:Amelogenesis Imperfecta / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D001938:Brazil / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D003743:Dental Enamel / Q000254:growth & development*; D003746:Dental Enamel Proteins / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D003746:Dental Enamel Proteins; D004247:DNA