title: Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.
abstract: Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2 mm and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families.
authors.affiliation: Department of Periodontology, School of Dentistry, Ege University, Izmir, Turkey. sema.cinar@ege.edu.tr
authors.forename: Sema
authors.initials: S
authors.lastname: Becerik
authors.forename: Dilsah
authors.initials: D
authors.lastname: Cogulu
authors.forename: Gülnur
authors.initials: G
authors.lastname: Emingil
authors.forename: Ted
authors.initials: T
authors.lastname: Han
authors.forename: P Suzanne
authors.initials: PS
authors.lastname: Hart
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Hart
mesh_terms: D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003746:Dental Enamel Proteins / Q000235:genetics; D005190:Family; D005260:Female; D005808:Genes, Recessive / Q000502:physiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007610:Kallikreins / Q000235:genetics; D008297:Male; D053519:Matrix Metalloproteinase 20 / Q000235:genetics; D014421:Turkey
chemical_list: C490889:AMBN protein, human; C507199:AMELX protein, human; D053523:Amelogenin; D003746:Dental Enamel Proteins; D007610:Kallikreins; C120801:kallikrein 4; C507111:MMP20 protein, human; D053519:Matrix Metalloproteinase 20