The molecular basis of hereditary enamel defects in humans

Journal of Dental Research

Volumn 94, Issue 1, 2015, Pages 52-61

  Wright, J T ^a   Carrion, I A ^b   Morris, C ^c  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b MEHARRY MEDICAL COLLEGE   (United States)

^c Bon Secours Pediatric Gastroenterology Associates   (United States)

Author keywords

amelogenesis; development; genes; matrix; mutations; protein

Indexed keywords

ENAMEL PROTEIN;

ABNORMALITIES; ENAMEL; ENAMEL HYPOPLASIA; GENETIC DATABASE; GENETICS; HUMAN; PHENOTYPE; TOOTH DEVELOPMENT;

AMELOGENESIS; DATABASES, GENETIC; DENTAL ENAMEL; DENTAL ENAMEL HYPOPLASIA; DENTAL ENAMEL PROTEINS; HUMANS; PHENOTYPE;

EID: 84919490237     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034514556708     Document Type: Article

References (29)

1. Aberdam D, Aguzzi A, Baudoin C, Galliano MF, Ortonne JP, Meneguzzi G. Developmental expression of nicein adhesion protein (laminin-5) subunits suggests multiple morphogenic roles. Cell Adhes Communic. 1994 ; 2 (2). 115-129
2. Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Human Genet. 2007 ; 81 (4). 821-828
3. Aldred MJ, Savarirayan R, Crawford PJ. Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Dis. 2003 ; 9 (1). 19-23
4. Arquitt CK, Boyd C, Wright JT. Cystic fibrosis transmembrane regulator gene (CFTR) is associated with abnormal enamel formation. J Dent Res. 2002 ; 81 (7). 492-496
5. Ferrazzano GF, Sangianantoni G, Cantile T, Amato I, Orlando S, Ingenito A. Dental enamel defects in Italian children with cystic fibrosis: an observational study. Community Dent Health. 2012 ; 29 (1). 106-109
6. Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, et al. Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. J Dent Res. 2013 ; 92 (7). 598-603
7. Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet. 2004 ; 41 (7). 545-549
8. He P, Zhang Y, Kim SO, Radlanski RJ, Butcher K, Schneider RA, DenBesten PK. Ameloblast differentiation in the human developing tooth: effects of extracellular matrices. Matrix Biol. 2010 ; 29 (5). 411-419
9. Hu JC, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med. 2003 ; 14 (6). 387-398
10. Klein H. Dental fluorosis associated with hereditary diabetes insipidus. Oral Surg Oral Med Oral Pathol. 1975 ; 40 (6). 736-741
11. Koster MI. p63 in skin development and ectodermal dysplasias. J Invest Dermatol. 2010 ; 130 (10). 2352-2358
12. Lacruz RS, Smith CE, Chen YB, Hubbard MJ, Hacia JG, Paine ML. Gene-expression analysis of early- and late-maturation-stage rat enamel organ. Eur J Oral Sci. 2011 ; 119: 149-157
13. Lacruz RS, Smith CE, Moffatt P, Chang EH, Bromage TG, Bringas P, Nanci A, Baniwal SK, Zabner J, Welsh MJ, et al. Requirements for ion and solute transport, and pH regulation during enamel maturation. J Cell Physiol. 2012 ; 227 (4). 1776-1785
14. Lagerstrom-Fermer M, Nilsson M, Bäckman B, Salido E, Shapiro L, Pettersson U, Landegren U. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics. 1995 ; 26 (1). 159-162
15. Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL. Focal dermal hypoplasia: a case report and literature review. Oral Surg Oral Med Ooral Pathol. 2011 ; 112 (2). e11 - e18
16. Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet. 1998 ; 7 (3). 563-569
17. Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, et al. Mutations in ROGDI cause Kohlschutter-Tonz syndrome. Am J Hum Genet. 2012 ; 90 (4). 701-707
18. Sehic A, Risnes S, Khan QE, Khuu C, Osmundsen H. Gene expression and dental enamel structure in developing mouse incisor. Eur J Oral Sci. 2010 ; 118 (2). 118-130
19. Simmer JP, Fincham AG. Molecular mechanisms of dental enamel formation. Crit Rev Oral Biol Med. 1995 ; 6 (2). 84-108
20. Smith CE. Cellular and chemical events during enamel maturation. Crit Rev Oral Biol Med. 1998 ; 9 (2). 128-161
21. Wang SK, Chan HC, Rajderkar S, Milkovich RN, Uston KA, Kim JW, Simmer JP, Hu JC. Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families. Eur J Oral Sci. 2011 ; 119: 158-167
22. Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC. FAM20A mutations associated with enamel renal syndrome. J Dent Res. 2014 ; 93 (1). 42-48
23. Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 ; 39 (7). 836-838
24. Wen X, Kurtz I, Paine ML. Prevention of the disrupted enamel phenotype in slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. PLoS One. 2014 ; 9 (5). e97318
25. Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited, problems in classification. J Oral Pathol. 1989 ; 17 (9-10). 547-553
26. Wright JT. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006 ; 140 (23). 2547-2555
27. Wright JT, Fine JD, Johnson LB. Developmental defects of enamel in humans with hereditary epidermolysis bullosa. Arch Oral Biol. 1993 ; 38 (11). 945-955
28. Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res. 2003 ; 44: 72-78
29. Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011 ; 194 (2-4). 279-283