title: Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.
abstract: OBJECTIVE
  To identify the molecular genetic aetiology of a family with autosomal dominant amelogenesis imperfecta (AI).
  
  
  METHODS
  DNA samples were collected from a six-generation family, and the candidate gene approach was used to screen for the enamelin (ENAM) gene. Whole-exome sequencing and linkage analysis with SNP array data identified linked regions, and candidate gene screening was performed.
  
  
  RESULTS
  Mutational analysis revealed a mutation (c.561_562delCT and p.Tyr188Glnfs*13) in the DLX3 gene. After finding a recurrent DLX3 mutation, the clinical phenotype of the family members was re-examined. The proband's mother had pulp elongation in the third molars. The proband had not hair phenotype, but her cousin had curly hair at birth.
  
  
  CONCLUSIONS
  In this study, we identified a recurrent 2-bp deletional DLX3 mutation in a new family. The clinical phenotype was the mildest one associated with the DLX3 mutations. These results will advance the understanding of the functional role of DLX3 in developmental processes.
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Seymen
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Koruyucu
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: Y
authors.initials: Y
authors.lastname: Kasimoglu
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: K
authors.initials: K
authors.lastname: Gencay
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: T J
authors.initials: TJ
authors.lastname: Shin
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: H-K
authors.initials: HK
authors.lastname: Hyun
authors.affiliation: Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Z H
authors.initials: ZH
authors.lastname: Lee
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.|Department of Molecular Genetics & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000328:Adult; D000567:Amelogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011861:Radiography, Dental; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C088334:Distal-less homeobox proteins; D018398:Homeodomain Proteins; D014157:Transcription Factors
keywords: DLX3; Taurodontism; enamel; genetic diseases; hereditary; tooth