Research Article

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta†

  1. Sema Becerik1,*,
  2. Dilsah Cogulu2,
  3. Gülnur Emingil1,
  4. Ted Han3,
  5. P. Suzanne Hart4,
  6. Thomas C. Hart3

Article first published online: 15 JUN 2009

DOI: 10.1002/ajmg.a.32885

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 149A, Issue 7, pages 1392–1398, July 2009

Additional Information

How to Cite

Becerik, S., Cogulu, D., Emingil, G., Han, T., Hart, P. S. and Hart, T. C. (2009), Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. American Journal of Medical Genetics Part A, 149A: 1392–1398. doi: 10.1002/ajmg.a.32885

Author Information

  1. 1

    Department of Periodontology, School of Dentistry, Ege University, İzmir, Turkey

  2. 2

    Department of Pedodontics, School of Dentistry, Ege University, İzmir, Turkey

  3. 3

    Human and Craniofacial Genetics Section, Craniofacial and Skeletal Diseases Branch, NIDCR, NIH, Bethesda, Maryland

  4. 4

    Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland

*Department of Periodontology, School of Dentistry, Ege University, Bornova 35100, Izmir, Turkey.

  1. †

    How to cite this article: Becerik S, Cogulu D, Emingil G, Han T, Hart PS, Hart TC. 2009. Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. Am J Med Genet Part A 149A:1392–1398.

Publication History

  1. Issue published online: 18 JUN 2009
  2. Article first published online: 15 JUN 2009
  3. Manuscript Accepted: 15 MAR 2009
  4. Manuscript Received: 24 SEP 2008

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Keywords:

  • autosomal recessive amelogenesis imperfecta;
  • AMBN;
  • AMELX;
  • ENAM;
  • FAM83H;
  • KLK4;
  • MMP20;
  • TUFT1

Abstract

Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2 mm and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families. © 2009 Wiley-Liss, Inc.

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