Molecular genetic etiology of amelogenesis imperfecta

법랑질 형성부전증의 분자유전학적 고찰

  • 김정욱 (서울대학교 치과대학 소아치과학교실 및 치의학연구소)
  • Published : 2008.02.29

Abstract

Keywords

References

  1. Nanci A: Ten Cate's Oral Histology Development, Structure, and Function. Vol, 6th ed. Mosby, St. Louis, MO, USA, 2003.
  2. Hu JC, Chun YH, Al Hazzazzi T, et al.: Enamel formation and amelogenesis imperfecta. Cells Tissues Organs, 186:78-85, 2007. https://doi.org/10.1159/000102683
  3. Witkop CJ, Jr.: Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol, 17:547- 553, 1988. https://doi.org/10.1111/j.1600-0714.1988.tb01332.x
  4. Kida M, Ariga T, Shirakawa T, et al.: Autosomaldominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon- intron boundary. J Dent Res, 81:738-742, 2002. https://doi.org/10.1177/154405910208101103
  5. Hart PS, Michalec MD, Seow WK, et al.: Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol, 48:589-596, 2003. https://doi.org/10.1016/S0003-9969(03)00114-6
  6. Kim JW, Seymen F, Lin BP, et al.: ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res, 84:278-282, 2005. https://doi.org/10.1177/154405910508400314
  7. Wright JT: The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A, 140:2547-2555, 2006.
  8. Chosack A, Eidelman E, Wisotski I, et al.: Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol, 47:148-156, 1979. https://doi.org/10.1016/0030-4220(79)90170-1
  9. Backman B, Holm AK: Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county. Community Dent Oral Epidemiol, 14:43-47, 1986. https://doi.org/10.1111/j.1600-0528.1986.tb01493.x
  10. Sundell S, Valentin J: Hereditary aspects and classification of hereditary amelogenesis imperfecta. Community Dent Oral Epidemiol, 14:211-216, 1986. https://doi.org/10.1111/j.1600-0528.1986.tb01537.x
  11. 박종하, 김재곤, 백병주, 등: 법랑질 형성 부전증에 관한 증례 보고. 대한소아치과학회지, 25:598-603, 1998.
  12. 백병주, 김상훈, 이승익, 등: 법랑질형성부전증에 대한 증례보고. 대한소아치과학회지, 27:499-504, 2000.
  13. Smith CE, Pompura JR, Borenstein S, et al.: Degradation and loss of matrix proteins from developing enamel. Anat. Rec., 224:292-316, 1989. https://doi.org/10.1002/ar.1092240219
  14. Hu JC, Simmer J: Developmental biology and genetics of dental malformations. Orthod Craniofac Res, 10:45-52, 2007. https://doi.org/10.1111/j.1601-6343.2007.00384.x
  15. Ikawa T, Kakegawa A, Nagano T, et al.: Porcine amelogenin is expressed from the X and Y chromosomes. J Dent Res, 84:144-148, 2005. https://doi.org/10.1177/154405910508400207
  16. Wright JT, Daly B, Simmons D, et al.: Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation. Eur J Oral Sci, 114 Suppl 1:13-17; discussion 39-41, 379, 2006. https://doi.org/10.1111/j.1600-0722.2006.00291.x
  17. Kim JW, Simmer JP, Hu YY, et al.: Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dent Res, 83:378-383, 2004. https://doi.org/10.1177/154405910408300505
  18. Ravassipour DB, Hart PS, Hart TC, et al.: Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent Res, 79:1476-1481, 2000. https://doi.org/10.1177/00220345000790070801
  19. Mardh CK, Backman B, Holmgren G, et al.: A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet, 11:1069-1074, 2002. https://doi.org/10.1093/hmg/11.9.1069
  20. Hart TC, Hart PS, Gorry MC, et al.: Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet, 40:900-906, 2003. https://doi.org/10.1136/jmg.40.12.900
  21. Kim JW, Simmer JP, Hart TC, et al.: MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet, 42:271-275, 2005. https://doi.org/10.1136/jmg.2004.024505
  22. Ozdemir D, Hart PS, Ryu OH, et al.: MMP20 active- site mutation in hypomaturation amelogenesis imperfecta. J Dent Res, 84:1031-1035, 2005. https://doi.org/10.1177/154405910508401112
  23. Papagerakis P, Lin HK, Lee KY, et al.: Premature stop codon in MMP20 causing amelogenesis imperfecta. J Dent Res, 87:56-59, 2008. https://doi.org/10.1177/154405910808700109
  24. Hart PS, Hart TC, Michalec MD, et al.: Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet, 41:545- 549, 2004. https://doi.org/10.1136/jmg.2003.017657
  25. Price JA, Wright JT, Kula K, et al.: A common DLX3 gene mutation is responsible for tricho-dentoosseous syndrome in Virginia and North Carolina families. J Med Genet, 35:825-828, 1998. https://doi.org/10.1136/jmg.35.10.825
  26. Dong J, Amor D, Aldred MJ, et al.: DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A, 133:138-141, 2005.
  27. Wright JT, Hong SP, Simmons D, et al.: DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. Am J Med Genet A, 146:343-349, 2008.
  28. Mendoza G, Pemberton TJ, Lee K, et al.: A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Hum Genet, 120:653-662, 2007.
  29. Kim JW, Lee SK, Lee ZH, et al.: FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta. Am J Hum Genet, 82:489-494, 2008. https://doi.org/10.1016/j.ajhg.2007.09.020