Candidate Gene Strategy Reveals ENAM Mutations

Kang H. -. , Seymen F. , Lee S. -. , Yıldırım M. S. , Tuna E. B. , Patir A., ...Daha Fazla

JOURNAL OF DENTAL RESEARCH, cilt.88, ss.266-269, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 88 Konu: 3
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1177/0022034509333180
  • Sayfa Sayıları: ss.266-269


Amelogenesis imperfecta (AI) is a genetically and phenotypically heterogeneous genetic disorder affecting tooth enamel without other non-oral syndromic conditions. Based on a review of the literature, the authors constructed a candidate-gene-based mutational analysis strategy. To test the strategy, they identified two Turkish families with hypoplastic enamel without any other non-oral syndromic phenotype. The authors analyzed all exons and exon/intron boundaries of the enamelin (ENAM) gene for family 1 and the DLX3 and ENAM genes for family 2, to identify the underlying genetic etiology. The analysis revealed 2 ENAM mutations (autosomal-dominant g. 14917delT and autosomal-recessive g. 13185-13186insAG mutations). A single T deletion in exon 10 is a novel deletional mutation (g. 14917delT, c. 2991delT), which is predicted to result in a frameshift with a premature termination codon (p. L998fsX1062). This result supports the use of a candidate-gene-based strategy to study the genetic basis for AI.