title: Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.
abstract: OBJECTIVE
  To determine the underlying molecular genetic aetiology of a family with the hypocalcified form of amelogenesis imperfecta and to investigate the hardness of the enamel and dentine of a known FAM83H mutation.
  
  
  METHODS
  Mutational screening of the FAM83H on the basis of candidate gene approach was performed. All exons and exon-intron boundaries was amplified and sequenced. A microhardness test was performed to measure the Vickers microhardness value.
  
  
  RESULTS
  A novel nonsense mutation (c.1354C>T, p.Q452X) was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel. The affected enamel was extremely soft (about 17% of the normal control), but the underlying dentine was as hard as the normal control.
  
  
  CONCLUSIONS
  Mutational analysis revealed a novel mutation in FAM83H gene. Hardness of dentine was not affected by the mutation, whilst the enamel was extremely soft.
authors.affiliation: Department of Pediatric Dentistry, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: H-K
authors.initials: HK
authors.lastname: Hyun
authors.forename: S-K
authors.initials: SK
authors.lastname: Lee
authors.forename: K-E
authors.initials: KE
authors.lastname: Lee
authors.forename: H-Y
authors.initials: HY
authors.lastname: Kang
authors.forename: E-J
authors.initials: EJ
authors.lastname: Kim
authors.forename: P-H
authors.initials: PH
authors.lastname: Choung
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000566:Amelogenesis / Q000235:genetics*; D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D003743:Dental Enamel / Q000473:pathology; D003746:Dental Enamel Proteins / Q000235:genetics*; D003799:Dental Stress Analysis; D005260:Female; D005799:Genes, Dominant; D006244:Hardness; D006801:Humans; D008963:Molar / Q000473:pathology; D011506:Proteins / Q000235:genetics*; D014074:Tooth Calcification / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D003746:Dental Enamel Proteins; C527308:FAM83H protein, human; D011506:Proteins