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J Investig Clin Dent. 2011 Feb;2(1):16-22. doi: 10.1111/j.2041-1626.2010.00038.x. Epub 2010 Nov 8.

Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.

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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.



  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.


  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.


  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.


  Further investigations are required to identify other genes responsible for the various clinical phenotypes.


AMBN; ENAM; ameloblastin; amelogenesis imperfecta; enamelin

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