Hereditary dentin defects

Journal of Dental Research

Volumn 86, Issue 5, 2007, Pages 392-399

  Kim, J W ^a   Simmer, J P ^b  

^a BK 21 Plus   (South Korea)

^b UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Dentin; Dentin dysplasia; Dentin sialophosphoprotein; Dentinogenesis imperfecta; Osteogenesis imperfecta

Indexed keywords

COLLAGEN TYPE 1; DSPP PROTEIN, HUMAN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ANIMAL; CHROMOSOME 4; CLASSIFICATION; CONGENITAL MALFORMATION; DENTIN; EXTRACELLULAR MATRIX; GENETICS; HUMAN; MUTATION; PATHOLOGY; REVIEW; TOOTH MALFORMATION;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 4; COLLAGEN TYPE I; DENTIN; DENTIN DYSPLASIA; DENTINOGENESIS IMPERFECTA; EXTRACELLULAR MATRIX; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MUTATION;

EID: 34249322628     PISSN: 00220345     EISSN: None     Source Type: Journal    
DOI: 10.1177/154405910708600502     Document Type: Review

References (97)

1. Aitchison K, Ogilvie D, Honeyman M, Thompson E, Sykes B (1988). Homozygous osteogenesis imperfecta unlinked to collagen I genes. Hum Genet 78:233-236.
2. Aplin HM, Hirst KL, Dixon MJ (1999). Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region. J Dent Res 78:1270-1276.
3. Aubin I, Adams CP, Opsahl S, Septier D, Bishop CE, Auge N, et al. (2005). A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. Nat Genet 37:803-805.
4. Ball SP, Cook PJ, Mars M, Buckton KE (1982). Linkage between dentinogenesis imperfecta and Gc. Ann Hum Genet 46:35-40.
5. Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, Bardoel AF, van der Sluijs HA, et al. (1999). Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proc Natl Acad Sci USA 96:1054-1058.
6. Barabas GM (1969). The Ehlers-Danlos syndrome. Abnormalities of the enamel, dentine, cementum and the dental pulp: an histological examination of 13 teeth from 6 patients. Br Dent J 126:509-515.
7. Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC (2006). Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res 85:329-333.
8. Beighton P (1981). Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta? J Med Genet 18:124-128.
9. Bixler D (1976). Heritable disorders affecting dentin. In: Oral facial genetics. Stewart RE, Prescott GH, editors. St. Louis: C.V. Mosby Co., pp. 227-261.
10. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, et al (2002). Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 30:215-220.
11. Bonaventure J, Stanescu R, Stanescu V, Allain JC, Muriel MP, Ginisty D, et al. (1992). Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. Am J Med Genet 44:738-753.
12. Boughman JA, Halloran SL, Roulston D, Schwartz S, Suzuki JB, Weitkamp LR, et al. (1986). An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc. J Craniofac Genet Dev Biol 6:341-350.
13. Brenneise CV, Conway KR (1999). Dentin dysplasia, type II: report of 2 new families and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 87:752-755.
14. Brenner RE, Vetter U, Stoss H, Muller PK, Teller WM (1993). Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Brack syndrome). Eur J Pediatr 152:505-508.
15. Cauwels RG, De Coster PJ, Mortier GR, Marks LA, Martens LC (2005). Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance? J Oral Pathol Med 34:444-446.
16. Ciola B, Bahn SL, Goviea GL (1978). Radiographic manifestations of an unusual combination Types I and Type II dentin dysplasia. Oral Surg Oral Med Oral Pathol 45:317-322.
17. Clergeau-Guerithault S, Jasmin JR (1985). Dentinogenesis imperfecta type III with enamel and cementum defects. Oral Surg Oral Med Oral Pathol 59:505-510.
18. Costanzo LS (1998). Regulation of calcium and phosphate homeostasis. Adv Physiol Educ 275:S206-S216.
19. da Fonseca MA (2000). Dental findings in the Schimke immuno-osseous dysplasia. Am J Med Genet 93:158-160.
20. David JR (2001). Evolution and development: some insights from evolutionary theory. An Acad Bras Cienc 73:385-395.
21. Dean JA, Hartsfield JK Jr, Wright JT, Hart TC (1997). Dentin dysplasia, type II linkage to chromosome 4q. J Craniofac Genet Dev Biol 17:172-177.
22. Delgado S, Casane D, Bonnaud L, Laurin M, Sire JY, Girondot M (2001). Molecular evidence for precambrian origin of amelogenin, the major protein of vertebrate enamel. Mol Biol Evol 18:2146-2153.
23. Diamond O (1989). Dentin dysplasia type II: report of case. ASDC J Dent Child 56:310-312.
24. Dong J, Gu T, Jeffords L, MacDougall M (2005). Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am J Med Genet A 132:305-309.
25. Exposito JY, Cluzel C, Garrone R, Lethias C (2002). Evolution of collagens. Anat Rec 268:302-316.
26. Fisher LW, Fedarko NS (2003). Six genes expressed in bones and teeth encode the current members of the SIBLING family of proteins. Connect Tissue Res 44(Suppl 1):33-40.
27. Gajko-Galicka A (2002). Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochim Pol 49:433-441.
28. Goldberg M, Septier D, Rapoport O, Iozzo RV, Young MF, Ameye LG (2005). Targeted disruption of two small leucine-rich proteoglycans, biglycan and decorin, excerpts divergent effects on enamel and dentin formation. Calcif Tissue Int 77:297-310.
29. Goldberg M, Septier D, Oldberg A, Young MF, Ameye LG (2006). Fibromodulin-deficient mice display impaired collagen fibrillogenesis in predentin as well as altered dentin mineralization and enamel formation. J Histochem Cytochem 54:525-537.
30. Graham WL, Harley JB, Alberico C, Kelln EE (1965). Absent lamina dura associated with a developmental dentin abnormality. A family study. Arch Intern Med 116:837-841.
31. Gray PH (1970). A case of osteogenesis imperfecta, associated with dentinogenesis imperfecta, dating from antiquity. Clin Radial 21:106-108.
32. Gu K, Chang SR, Slaven MS, Clarkson BH, Rutherford RB, Ritchie HH (1998). Human dentin phosphophoryn nucleotide and amino acid sequence. Eur J Oral Sci 106:1043-1047.
33. Gu K, Chang S, Ritchie HH, Clarkson BH, Rutherford RB (2000). Molecular cloning of a human dentin sialophosphoprotein gene. Eur J Oral Sci 108:35-42.
34. Heimler A, Sciubba J, Lieber E, Kamen S (1985). An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family. Oral Surg Oral Med Oral Pathol 59:608-615.
35. Hodge HC, Lose GB, Finn SB, Gachet FS, Bassett SH, Robb RC, et al. (1936). Correlated clinical and structural study of hereditary opalescent dentin (abstract). J Dent Res 15:316-317.
36. Humphries MJ, Travis MA, Clark K, Mould AP (2004). Mechanisms of integration of cells and extracellular matrices by integrins. Biochem Soc Trans 32(Pt 5):822-825.
37. Kaiser D (2001). Building a multicellular organism. Annu Rev Genet 35:103-123.
38. Kantaputra PN (2001). A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 92:303-307.
39. Kantaputra PN (2002). Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. Am J Med Genet 111:420-428.
40. Kawasaki K, Weiss KM (2003). Mineralized tissue and vertebrate evolution: the secretory calcium-binding phosphoprotein gene cluster. Proc Natl Acad Sci USA 100:4060-4065.
41. Kawasaki K, Suzuki T, Weiss KM (2004). Genetic basis for the evolution of vertebrate mineralized tissue. Proc Natl Acad Sci USA 101:11356-11361.
42. Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, el al. (2004). A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 115:248-254.
43. Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, et al. (2005). Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 116:186-191.
44. Knoll AH (2003). Biomineralization and evolutionary history. Rev Min Geochem 54:329-356.
45. Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, et al. (1997). Targeted disruption of Cbfal results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89:755-764.
46. Komorowska A, Rozynkowa D, Lee KW, Renouf DV, Nicholls AC, MacKenzie J, et al. (1989). A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defect. Br Dent J 167:239-243.
47. Kuurila K, Grenman R, Johansson R, Kaitila I (2000). Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr 159:515-519.
48. Labuda M, Morissette J, Ward LM, Rauch F, Lalic L, Roughley PJ, et al. (2002). Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone 31:19-25.
49. Lawrence HP, Garcia RI, Essick GK, Hawkins R, Krall EA, Spiro A 3rd, et al. (2001). A longitudinal study of the association between tooth loss and age-related hearing loss. Spec Care Dentist 21:129-140.
50. Levin LS, Leaf SH, Jelmini RJ, Rose JJ, Rosenbaum KN (1983). Dentinogenesis imperfecta in the Brandywine isolate (Dl type III): clinical, radiologie, and scanning electron microscopic studies of the dentition. Oral Surg Oral Med Oral Pathol 56:267-274.
51. Linde A, Bhown M, Butler WT (1980). Noncollagenous proteins of dentin. A re-examination of proteins from rat incisor dentin utilizing techniques to avoid artifacts. J Biol Chem 255:5931 -5942.
52. Lund AM, Jensen BL, Nielsen LA, Skovby F (1998). Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism. J Craniofac Genet Dev Biol 18:30-37.
53. MacDougall M, Simmons D, Luan X, Nydegger J, Feng J, Gu TT (1997). Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination. J Biol Chem 272:835-842.
54. Malmgren B, Lindskog S (2003). Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta. Acta Odontol Scand 61:72-80.
55. Malmgren B, Norgren S (2002). Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand 60:65-71.
56. Malmgren B, Lindskog S, Elgadi A, Norgren S (2004). Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet 114:491-498.
57. Mao JR, Bristow J (2001). The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest 107:1063-1069.
58. Moog U, Maroteaux P, Schrander-Stumpel CT, van Ooij A, Schrander JJ, Fryns JP (1999). Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? J Med Genet 36:856-858.
59. Myllyharju J, Kivirikko KI (2001). Collagens and collagen-related diseases. Ann Med 33:7-21.
60. Myllyharju J, Kivirikko KJ (2004). Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 20:33-43.
61. Nagasaka H, Matsukubo T, Takaesu Y, Kobayashi Y, Sato T, Ishikawa T (2002). Changes and equalization in hearing level induced by dental treatment and instruction in bilaterally equalized chewing: a clinical report. Bull Tokyo Dent Coll 43:243-250.
62. Nanci A (2003). Dentin-pulp complex. In: Ten Gate's oral histology development, structure, and function. 6th ed. Nanci A, editor. St. Louis, MO, USA: Mosby, pp. 192-239.
63. O'Connell AC, Marini JC (1999). Evaluation of oral problems in an osteogenesis imperfecta population. Oral Surg Oral Med Oral Pathol Oral Radial Endod 87:189-196.
64. Oliveira RJ, Hammer B, Stillman A, Holm J, Jons C, Margolis RH (1992). A look at ear canal changes with jaw motion. Ear Hear 13:464-466.
65. Pallos D, Hart PS, Cortelli JR, Vian S, Wright JT, Korkko J, et al. (2001). Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. Arch Oral Biol 46:459-470.
66. Peterson KJ, Lyons JB, Nowak KS, Takacs CM, Wargo MJ, McPeek MA (2004). Estimating metazoan divergence times with a molecular clock. Proc Natl Acad Sci USA 101:6536-6541.
67. Pope FM, Komorowska A, Lee KW, Speight P, Zorawska H, Ranta H, et al. (1992). Ehlers Danlos syndrome type I with novel dental features. J Oral Pathol Med 21:418-421.
68. Qin C, Brunn JC, Jones J, George A, Ramachandran A, Gorski JP, et al. (2001). A comparative study of sialic acid-rich proteins in rat bone and dentin. Eur J Oral Sci 109:133-141.
69. Qin C, Baba O, Butler WT (2004). Post-translational modifications of sibling proteins and their roles in osteogenesis and dentinogenesis. Cril Rev Oral Biol Med 15:126-136.
70. Qin C, Huang B, Wygant JN, McIntyre BW, McDonald CH, Cook RG, et al. (2006). A chondroitin sulfate chain attached to the bone dentin matrix protein 1 NH2-terminal fragment. J Biol Chem 281:8034-8040.
71. Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ (2002). Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 11:2559-2565.
72. Ranta H, Lukinmaa PL, Knif J (1990). Dentin dysplasia type II: absence of type HI collagen in dentin. J Oral Pathol Med 19:160-165.
73. Ranta H, Lukinmaa PL, Waltimo J (1993). Heritable dentin defects: nosology, pathology, and treatment. Am J Med Genet 45:193-200.
74. Rauch F, Glorieux FH (2004). Osteogenesis imperfecta. Lancet 363:1377-1385.
75. Rich A, Crick FH (1955). The structure of collagen. Nature 176:915-916.
76. Ritchie HH, Wang LH (1996). Sequence determination of an extremely acidic rat dentin phosphoprotein. J Biol Chem 271:21695-21698.
77. Ritchie HH, Hou H, Veis A, Butler WT (1994). Cloning and sequence determination of rat dentin sialoprotein, a novel dentin protein. J Biol Chem 269:3698-3702.
78. Roberts E, Schour I (1939). Hereditary opalescent dentine (dentinogenesis imperfecta). Am J Orthod Oral Surg 25:267-276.
79. Roughley PJ, Rauch F, Glorieux FH (2003). Osteogenesis imperfectaclinical and molecular diversity. Eur Cell Mater 5:41-47.
80. Sapir S, Shapira J (2001). Dentinogenesis imperfecta: an early treatment strategy. Pediatr Dent 23:232-237.
81. Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, et al. ( 1999). Schimke immunoosseous dysplasia: case report and review of 25 patients. J Med Genet 36:786-789.
82. Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen M, et al. (2001). A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 345:1167-1175.
83. Shields ED, Bixler D, el-Kafrawy AM (1973). A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral 3/0/18:543-553.
84. Sreenath T, Thyagarajan T, Hall B, Longenecker G, D'Souza R, Hong S, et al. (2003). Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. J Biol Chem 278:24874-24880.
85. Tanaka T, Murakami T (1998). Radiological features of hereditary opalescent dentin. Dentomaxillofac Radial 27:251-253.
86. Tidwell E, Cummingham CJ (1979). Dentinal dysplasia: endodontic treatment, with case report. J Endod 5:372-376.
87. Uitto J (2005). The Ehlers-Danlos syndrome-phenotypic spectrum and molecular genetics. Eur J Dermatol 15:311-312.4
88. van der Slot AJ, Zuurmond AM, Bardoel AF, Wijmenga C, Pruijs HE, Sillence DO, et al. (2003). Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. J Biol Chem 278:40967-40972.
89. Viguet-Carrin S, Garnero P, Delmas PD (2006). The role of collagen in bone strength. steoporos Int 17:319-336.
90. Witkop CJ Jr (1975). Hereditary defects of dentin. Dent Clin North Am 19:25-45.
91. Witkop CJ Jr (1989). Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 17:547-553.
92. Wray GA, Levington JS, Shapiro LH (1996). Molecular evidence for deep precambrian divergences among metazoan phyla. Science 274:568-573.
93. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, et al. (2001). Dentinogenesis imperfecta l with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 27:201-204.
94. Yamakoshi Y, Hu JC, Fukae M, Iwata T, Kirn JW, Zhang H, et al. (2005a). Porcine dentin sialoprotein is a proteoglycan with glycosaminoglycan chains containing chondroitin 6sulfate. J Biol Chem 280:1552-1560.
95. Yamakoshi Y, Hu JC, Fukae M, Zhang H, Simmer JP (2005b). Dentin glycoprotein: the protein in the middle of the dentin sialophosphoprotein chimera. J Biol Chem 280:17472-17479.
96. Ye L, MacDougall M, Zhang S, Xie Y, Zhang J, Li Z, et al. (2004). Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development. J Biol Chem 279:19141-19148.
97. Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, et al. (2001). DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 27:151 -152.