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Journal of Dental Research
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Clinical

Candidate Gene Strategy Reveals ENAM Mutations

H.-Y. Kang1, F. Seymen2, S.-K. Lee1, M. Yildirim2, E. Bahar Tuna2, A. Patir2, K.-E. Lee1 and J.-W. Kim1,3,*

1 Department of Cell and Developmental Biology, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul, Korea;
2 Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey; and
3 Department of Pediatric Dentistry, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea

Correspondence: Dental Genetics Laboratory, pedoman{at}snu.ac.kr

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.

Key Words: Enamelin • ENAM • enamel • tooth • amelogenesis imperfecta

Journal of Dental Research, Vol. 88, No. 3, 266-269 (2009)
DOI: 10.1177/0022034509333180
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