title: Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.
abstract: OBJECTIVE
  This study was undertaken to investigate whether a single G deletion within a series of seven G residues (codon 196) at the exon 9-intron 9 boundary of the enamelin gene ENAM and a tri-nucleotide deletion at codon 180 in exon 7 (GGA vs deletion) of ameloblastin gene AMBN could have a role in autosomal amelogenesis imperfecta among affected Syrian families.
  
  
  METHODS
  A new technique - size-dependent, deletion screening - was developed to detect nucleotide deletion in ENAM and AMBN genes. Twelve Syrian families with autosomal-dominant or -recessive amelogenesis imperfecta were included.
  
  
  RESULTS
  A homozygous/heterozygous mutation in the ENAM gene (152/152, 152/153) was identified in affected members of three families with autosomal-dominant amelogenesis imperfecta and one family with autosomal-recessive amelogenesis imperfecta. A heterozygous mutation (222/225) in the AMBN gene was identified. However, no disease causing mutations was found. The present findings provide useful information for the implication of ENAM gene polymorphism in autosomal-dominant/-recessive amelogenesis imperfecta.
  
  
  CONCLUSIONS
  Further investigations are required to identify other genes responsible for the various clinical phenotypes.
authors.affiliation: Department of Paediatric Dentistry, Faculty of Dentistry, University of Damascus, Damascus, Syria Transplantation Laboratory, Manchester Royal Infirmary, Manchester, UK Training and Research Centre for Oral Health, Ministry of Education, Damascus, Syria Population Oral Health, Faculty of Dentistry, University of Sydney, Sydney, Australia.
authors.forename: Mayssoon
authors.initials: M
authors.lastname: Dashash
authors.forename: Mohamed Riza
authors.initials: MR
authors.lastname: Bazrafshani
authors.forename: Kay
authors.initials: K
authors.lastname: Poulton
authors.forename: Saaed
authors.initials: S
authors.lastname: Jaber
authors.forename: Emad
authors.initials: E
authors.lastname: Naeem
authors.forename: Anthony Stevenson
authors.initials: AS
authors.lastname: Blinkhorn
mesh_terms: D000225:Adenine; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D000595:Amino Acid Sequence / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D003746:Dental Enamel Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006147:Guanine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics; D007438:Introns / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D013593:Syria
chemical_list: C490889:AMBN protein, human; D003062:Codon; D003746:Dental Enamel Proteins; C550525:ENAM protein, human; D016326:Extracellular Matrix Proteins; D006147:Guanine; D000225:Adenine
keywords: AMBN; ENAM; ameloblastin; amelogenesis imperfecta; enamelin