title: Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.
abstract: BACKGROUND
  Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and FAM83H responsible for amelogenesis imperfect.
  
  
  METHODS
  Geneomic DNA was isolated from five Iranian families with 22 members affected with enamel malformations. The PCR amplifications were typically carried out for amplification the coding regions for AI patients and unaffected family members. The PCR products were subjected to direct sequencing. The pedigree analysis was performed using Cyrillic software.
  
  
  RESULTS
  One family had four affected members with autosomal dominant hypocalcified amelogenesis imperfecta (ADHPCAI); pedigree analysis revealed four consanguineous families with 18 patients with autosomal recessive hypoplastic amelogenesis imperfecta (ARHPAI). One non-synonymous single-nucleotide substitution, c.1150T>A, p. Ser 342Thr was identified in the FAM83H, which resulted in ADHCAI. Furthermore, different polymorphisms or unclassified variants were detected in MMP20, ENAM and KLK4.
  
  
  CONCLUSIONS
  Our results are consistent with other studies and provide further evidence for pathogenic mutations of FAM83H gene. These findings suggest different loci and genes could be implicated in the pathogenesis of AI.
authors.affiliation: Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, Tehran, Iran ; Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, International Campus, Tehran, Iran.
authors.forename: S Jalal
authors.initials: SJ
authors.lastname: Pourhashemi
authors.affiliation: Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Ghandehari Motlagh
authors.affiliation: Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ghasem
authors.initials: G
authors.lastname: Meighani
authors.affiliation: Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Ebrahimi Takaloo
authors.affiliation: Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Mansouri
authors.affiliation: Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Mohandes
authors.affiliation: Dept. of Pediatric Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Mirzaii
authors.affiliation: Dept. Bio Dental Materials, Dental Faculty of Tehran University of Medical Sciences, Tehran, Iran ; Stem Cell Preparation Unit, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ahad
authors.initials: A
authors.lastname: Khoshzaban
authors.affiliation: Stem Cell Preparation Unit, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Faranak
authors.initials: F
authors.lastname: Moshtaghi
authors.affiliation: Stem Cell Preparation Unit, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Hoda
authors.initials: H
authors.lastname: Abedkhojasteh
authors.affiliation: Stem Cell Preparation Unit, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran ; Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mansour
authors.initials: M
authors.lastname: Heidari
keywords: Amelogenesis imperfecta; FAM83H; Iranian patients