Archives of Oral Biology
Volume 46, Issue 5 , Pages 459-470 , May 2001

Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta

  • D. Pallos

      Affiliations

    • Department of Periodontology, School of Dentistry, University of Taubate, Sao Paulo, SP Brazil
  • ,
  • P.S. Hart

      Affiliations

    • Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA
  • ,
  • J.R. Cortelli

      Affiliations

    • Department of Periodontology, School of Dentistry, University of Taubate, Sao Paulo, SP Brazil
  • ,
  • S. Vian

      Affiliations

    • Department of Periodontics, School of Dentistry, Faculdade Integradas Maria Coelho Aguiar, Porto Velho RO, Brazil
  • ,
  • J.T. Wright

      Affiliations

    • Department of Pediatric Dentistry, University of North Carolina, Chapel Hill, NC, USA
  • ,
  • J. Korkko

      Affiliations

    • Center for Gene Therapy, MCP Hahnemann University, Philadelphia, PA, USA
  • ,
  • D. Brunoni

      Affiliations

    • Centro de Genetica Medica, UNIFESP; Sao Paulo, Brazil
  • ,
  • T.C. Hart

      Affiliations

    • Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA
    • Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1-412-3837695; fax: +1-412-6243080

,Accepted 22 September 2000.

References 

  1. Aplin HM, Hirst KL, Dixon MJ. 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. 1999;78:1270–1276
  2. Ball SP, Cook PJ, Mars M, Buckton KE. Linkage between dentinogenesis imperfecta and Gc. Ann. Hum. Genet. 1982;46:35–40
  3. Beighton P. Familial dentinogenesis imperfecta, blue sclera, and wormian bones without fractures: another type of osteogenesis imperfecta?. J. Med. Genet. 1981;18:124–128
  4. Beighton P. Familial dentinogenesis imperfecta, blue sclera and wormian bones without fractures: another type of osteogenesis imperfecta?. J. Med. Genet. 1986;18:124–128
  5. Bixler D, Conneally PM, Christen AG. Dentinogenesis imperfecta: genetic variation in a six-generation family. J. Dent. Res. 1968;48:1196–1199
  6. Boskey AL, Wright TM, Blank RD. Collagen and bone strength. J. Bone Miner. Res. 1999;14:330–335
  7. Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM. Procollagen II gene mutation in Stickler syndrome. Arch. Ophthal. 1992;110:1589–1593
  8. Byers PH. Osteogenesis imperfecta. In:  Royce PM,  Steinmann B editor. Connective Tissue and Its Genet Heritable Disorders: Molecular, Genetic and Medical Aspects. New York: Wiley-Liss; 1993;p. 317–350
  9. Cohn et al IV Int Conf on OI 47 1990.Database of Human Type 1 and Type III Collagen Mutations. http://www.le.ac.uk/genetics/collagen/.
  10. Cole WG. The molecular pathology of osteogenesis imperfecta. Clin. Orthop. Relat. Res. 1997;343:235–247
  11. Crosby AH, Scherpbier-Heddema T, Wijmenga C, Altherr MR, Murray JC, Buetow KH, et al. Genetic mapping of the dentinogenesis imperfecta type II locus. Am. J. Hum. Genet. 1995;57:832–839
  12. De Paepe A, Nuytinck L, Raes M, Fryns J-P. Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. Hum. Genet. 1997;99:478–483
  13. Dean JA, Hartsfield JK, Wright JT, Hart TC. Dentin dysplasia, type II linkage to chromosome 4q. J. Craniofac. Genet. Dev. Biol. 1997;17:172–177
  14. Falk CT, Schwartz RC, Ramirez F, Tsipouras P. Use of molecular haplotypes specific for the human pro-alpha-2 (1) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta. Am. J. Hum. Genet. 1986;38:269–279
  15. Francis MJO, Bauze RJ, Smith R. Osteogenesis imperfecta: a new classification. Birth Defects Orig. Art. Ser. 1975;6:99–102
  16. Goldblatt J, Carman P, Sprague P. Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. Am. J. Med. Genet. 1991;39:170–172
  17. Gorlin RJ, Cohen MM, Levin LS. In: Syndromes of the Head and Neck. third ed.. Oxford University Press; 1990;p. 155–166
  18. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993–94 Genethon human genetic linkage map. Nat. Genet. 1994;7:246–339
  19. Hart TC, Bowden D, Bolyard J, Hall K, Kula K, Wright TW. Genetic linkage of tricho-dento-osseous syndrome to chromosome 17q. Hum. Mol. Genet. 1997;6:2279–2284
  20. Hart TC, Marazita ML, Wright JT. The impact of molecular genetics on oral health paradigms. Crit. Rev. Oral Biol. Med. 2000;11:26–56
  21. Kerebel B, LeCabellec MT, Kerebel LM, Villette A. Dentine opalescente hereditaire (dentinogenese imparfaite type II). Actiral Odontostomatol. 1978;124:539–558
  22. Lander ES, Green P. Construction of multilocus genetic maps in humans. Proc. Natl. Acad. Sci. USA. 1987;84:2363–2367
  23. Lathrop GM, Lalouel JM. Fast calculations of LOD scores and genetic risks on small computers. Am. J. Hum. Genet. 1984;36:460–465
  24. Levin LS, Leaf SH, Jelmini RJ, Rose JJ, Rosenbaum NK. Dentinogenesis imperfecta in the Brandywine isolate (DI type III) clinical, radiologic, and scanning electron microscopic studies of the dentition. Oral. Surg. Oral. Pathol. Oral. 1983;53:267–274
  25. Lightfoot SJ, Atkinson MS, Murphy G, Byers PH, Kadler KE. Substitution of serine for glycine 883 in the triple helix of the Proα1(I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase. J. Biol. Chem. 1994;269:30352–30357
  26. Lindau B, Deitz W, Lundgren T, Storhaug K, Noren JG. Discrimination of morphological findings in dentine from ostegenesis imperfecta patients using combinations of polarized light microscopy, microradiography and scanning electron microscopy. Int. J. Paediatr. Dent. 1999;9:253–261
  27. Lund AM, Schwartz M, Skovby F. Variable clinical expression in a family with OI type IV due to deletion of three base pair in COL1A1. Clin. Genet. 1996;50:304–309
  28. MacDougall M, Jeffords LG, Gu TT, Knight CB, Frei G, Reus BE, et al. Genetic Linkage of the dentinogenesis imperfecta type III locus to chromosome 4q. J. Dent. Res. 1999;78:1277–1282
  29. Marini JC. Osteogenesis imperfecta: comprehensive management. Advances in Pediatrics. 1988;35:391–426
  30. Marini JC, Grange DK, Gottesman GS, Lewis MB, Koeplin DA. Osteogenesis imperfecta type IV: detection of a point mutation in one α1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. J. Biol. Chem. 1989;264:11893–11900
  31. Mottes M, Gomez Lira MM, Valli M, Scarano G, Lonardo F, Forlino A, et al. Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta. Hum. Mutat. 1993;2:196–204
  32. Nicholls AC, Oliver J, Renouf DV, Keston M, Pope FM. Substitution of cysteine for glycine at residue 415 of one allele of the α1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. J. Med. Genet. 1991;28:757–764
  33. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: {MIM 166200}:{5/20/1999}; {MIM 166220}:{9/16/1999}; {MIM 120160}:{12/10/1998}; {MIM 120150}:{2/3/2000}. World Wide Web http://www.ncbi.nlm.nih.gov/omim.
  34. Orlowski RM, Reeve CM. Inherited dentinogenesis imperfecta. Oral Surg. 1975;39:742–746
  35. Paterson CR, McAllion S, Miller R. Heterogeneity of osteogenesis imperfecta type I. J. Med. Genet. 1983;20:203–205
  36. Petrone JA, Noble ER. Dentin dysplasia type I: a clinical report. J. Am. Dent. Assoc. 1981;103:891–893
  37. Price JA, Bowden DW, Wright JT, Pettanati MJ, Hart TC. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum. Mol. Genet. 1998;7:563–569
  38. Price JA, Bowden DW, Hart TC. Identification of a highly polymorphic CA/TG locus proximal to the human DLX-3 locus. Human Heredity. 1998;48:100–101
  39. Sarafova AP, Choi H, Forlino A, Gajko A, Cabral WA, Tosi L, et al. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. Hum. Mutat. 1998;11:395–403
  40. Shields ED. A new classification of heritable human enamel defects and a discussion of dentin defects. Birth Defects Orig. Artic. Ser. 1983;19:107–127
  41. Shields ED, Bixler D, el-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Arch. Oral Biol. 1973;18:543–553
  42. Sillence DO. Osteogenesis imperfecta: an expanding panorama of variants. Clin. Orthop. Relat. Res. 1981;159:11–25
  43. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 1979;16:101–116
  44. Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P. Osteogenesis imperfecta type III: mutations in type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. J. Med. Genet. 1993;30:492–496
  45. Waltimo J, Ranta H, Lukinmaa PL. Ultrastructure of dentin matrix in heritable dentin defects. Scanning Microsc. 1995;9:185–198
  46. Waltimo J, Ojanotko-Harri A, Lukinmaa PL. Mild form of dentinogenesis imperfecta in association with osteogenesis imperfecta as characterized by light and transmission electron microscopy. J. Oral Pathol. Med. 1996;25:256–264
  47. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, et al. A second-generation linkage map of the human genome. Nature. 1992;359:794–801
  48. Wenstrup RJ, Tsipouras P, Byers PH. Osteogenesis imperfecta type IV: biochemical confirmation of genetic linkage to the pro-alpha-2 (1) gene of type I collagen. J. Clin. Invest. 1986;78:1449–1455
  49. Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, et al. Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg 75-to cys mutation in the procollagen type II gene (COL2A1). Hum. Genet. 1993;92:499–505
  50. Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J. Oral Pathol. 1988;17:547–553
  51. Witkop CJ, Rao SR. Inherited defects of dentin. Birth Defects Orig. Art. Ser. 1971;7:153–184
  52. Wright JT, Gantt DG. The ultrastructure of the dental tissues in dentinogenesis imperfecta in man. Arch. Oral. Biol. 1985;30:201–206
  53. Yang W, Battineni ML, Brodsky B. Amino acid sequence environment modulates the disruption by osteogenesis imperfectaglycine substitutions in collagen-like peptides. Biochemistry. 1997;36:6930–6935

PII: S0003-9969(00)00130-8

Archives of Oral Biology
Volume 46, Issue 5 , Pages 459-470 , May 2001