title: Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.
abstract: OBJECTIVE
  The main clinical manifestations of amelogenesis imperfecta (AI) include alteration in the quality and quantity of enamel. AI is associated with different mutations in four genes: enamelin (ENAM), amelogenin (AMGX), kallikrein (KLK4) and enamelysin (MMP-20). Seven different mutations have been identified in the enamelin gene (ENAM).
  
  
  METHODS
  In this paper, we describe the phenotype and ultrastructure of enamel observed using scanning electron microscopy (SEM) in patients with two autosomal dominant (AD) mutations in the ENAM gene: g.13185-13186insAG and g.8344delG, each in one of two unrelated families. Mutations were confirmed by sequence analysis of PCR amplified products of all 10 exons and exon/intron boundaries of the ENAM gene.
  
  
  RESULTS
  Phenotypic diversity was observed in patients with ENAM gene mutations g.13185-13186insAG with consecutive protein alteration designated as p.P422fsX488 within family 1. In the proband, the enamel of his entire dentition was chalky white with only mild local hypoplastic alteration, while the phenotypic appearance of his father's dentition was that of local hypoplastic AI. In patients with the ENAM gene mutation g.8344delG from family 2 with consecutive protein alteration designated as p.N197fsX277, generalised hypoplastic AI was observed.
  
  
  CONCLUSIONS
  Ultrastructural enamel changes in the patient with the autosomal dominant ENAM g.13185-13186insAG mutation, described for the first time in this study, were less pronounced compared to ultrastructural changes in patients with the autosomal dominant ENAM mutation 8344delG. Ultrastructural characteristics of the g.13185-13186insAG mutation revealed deformed prisms, an oval shape on the cross-section and wider interprism spaces, while enamel with the ENAM mutation 8344delG was laminated, but prismless.
authors.affiliation: Department of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, Hrvatski trg 6, 1000 Ljubljana, Slovenia. alenka.pavlic@mf.uni-lj.si
authors.forename: Alenka
authors.initials: A
authors.lastname: Pavlic
authors.forename: Milan
authors.initials: M
authors.lastname: Petelin
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D003743:Dental Enamel / Q000000981:diagnostic imaging / Q000648:ultrastructure*; D003746:Dental Enamel Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000235:genetics / Q000473:pathology; D008855:Microscopy, Electron, Scanning; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011859:Radiography
chemical_list: D003746:Dental Enamel Proteins; C038456:tuftelin