title: Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta.
abstract: OBJECTIVE
  Hereditary defects in tooth enamel formation, amelogenesis imperfecta (AI), can be non-syndromic or syndromic phenotype. Integrins are signaling proteins that mediate cell-cell and cell-extracellular matrix communication, and their involvement in tooth development is well known. The purposes of this study were to identify genetic cause of an AI family and molecular pathogenesis underlying defective enamel formation.
  
  
  METHODS
  We recruited a Turkish family with isolated AI and performed mutational analyses to clarify the underlying molecular genetic etiology.
  
  
  RESULTS
  Autozygosity mapping and exome sequencing identified a novel homozygous ITGB6 transversion mutation in exon 4 (c.517G>C, p.Gly173Arg). The glycine at this position in the middle of the βI-domain is conserved among a wide range of vertebrate orthologs and human paralogs. Clinically, the enamel was generally thin and pitted with pigmentation. Thicker enamel was noted at the cervical area of the molars.
  
  
  CONCLUSIONS
  In this study, we identified a novel homozygous ITGB6 mutation causing isolated AI, and this advances the understanding of normal and pathologic enamel development.
authors.affiliation: Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Seymen
authors.forename: K-E
authors.initials: KE
authors.lastname: Lee
authors.forename: M
authors.initials: M
authors.lastname: Koruyucu
authors.forename: K
authors.initials: K
authors.lastname: Gencay
authors.forename: M
authors.initials: M
authors.lastname: Bayram
authors.forename: E B
authors.initials: EB
authors.lastname: Tuna
authors.forename: Z H
authors.initials: ZH
authors.lastname: Lee
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000566:Amelogenesis / Q000235:genetics; D000567:Amelogenesis Imperfecta / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D039641:Integrin beta Chains / Q000235:genetics*; D008963:Molar / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment; D014421:Turkey
chemical_list: D039641:Integrin beta Chains
keywords: autozygosity mapping; enamel; genetic diseases; hereditary; integrin; tooth