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

Abstract

AIM:

  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.

CONCLUSION:

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

• Authors: Mayssoon Dashash, Mohamed Riza Bazrafshani, Kay Poulton, Saaed Jaber, Emad Naeem, Anthony Stevenson Blinkhorn
• Journal: Journal of investigative and clinical dentistry (J Investig Clin Dent) Vol. 2 Issue 1 Pg. 16-22 (Feb 2011) ISSN: 2041-1626 [Electronic] Australia
• PMID: 25427323 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2010 Blackwell Publishing Asia Pty Ltd.

Chemical References

• AMBN protein, human
• Codon
• Dental Enamel Proteins
• ENAM protein, human
• Extracellular Matrix Proteins
• Guanine
• Adenine

Topics

• Adenine
• Amelogenesis Imperfecta (genetics)
• Amino Acid Sequence (genetics)
• Case-Control Studies
• Child
• Child, Preschool
• Codon (genetics)
• Dental Enamel Proteins (genetics)
• Exons (genetics)
• Extracellular Matrix Proteins (genetics)
• Female
• Guanine
• Heterozygote
• Homozygote
• Humans
• INDEL Mutation (genetics)
• Introns (genetics)
• Male
• Pedigree
• Phenotype
• Polymorphism, Genetic (genetics)
• Sequence Deletion (genetics)
• Syria