Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes

Pediatric Endocrinology Reviews

Volumn 4, Issue 1, 2006, Pages 40-46

  Tedeschi, Elisa ^a   Antoniazzi, Franco ^a   Venturi, Giacomo ^a   Zamboni, Giorgio ^a   Tatò, Luciano ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

Bisphosphonates; Collagen Type I Genes; Gene Therapy; Mutations; Osteogenesis Imperfecta

Indexed keywords

ANTISENSE OLIGODEOXYNUCLEOTIDE; BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1; GROWTH HORMONE; NERIDRONIC ACID;

ABSENCE OF SIDE EFFECTS; ARTICLE; BRACE; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENE SEQUENCE; GENE THERAPY; GENETIC CODE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MESENCHYME CELL; OSTEOGENESIS IMPERFECTA; PALLIATIVE THERAPY; PHYSIOTHERAPY; STEM CELL TRANSPLANTATION;

COLLAGEN TYPE I; GENOTYPE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE;

EID: 33749484498     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Roughley PJ, F Rauch and FH Glorieux. Osteogenesis imperfecta-clinical and molecular diversity. Eur Cell Mater 2003;5:41-47
2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-116
3. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000;15:1650-1658
4. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers RI. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002;17:30-38
5. Ablin DS and Sane SM. Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol. 1997;27:111-113
6. Miller ME and Hangartner TN. Temporary brittle bone disease: association with decreased fetal movement and osteopenia. Calcif Tissue Int 1999;64:137-143
7. Smith R. Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease. Arch Dis Child 1995;72:169-171
8. Moore MS, Minch CM, Kruse RW, Harcke HT, Jacobson L, Taylor A. The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop 1998;27:797-801
9. Zionts LE, Nash JP, Rude R, Ross T, Stott NS. Bone mineral density in children with mild osteogenesis imperfecta. J Bone Joint Surg Br. 1995 Jan;77:143-147
10. Lund AM, Hansen M, Kollerup G, Juul A, Teisner B, Skovby F. Collagen-derived markers of bone metabolism in osteogenesis imperfecta. Acta Paediatr 1998;87:1131-1137
11. Gajko-Galicka A. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochim Pol 2002;49:433-441
12. Byers PH. Osteogenesis imperfecta: perspectives and opportunities. Curr Opin Pediatr 2000 Dec; 12:603-609
13. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363: 1377-1385
14. Dagleish, 1997 http://www.le.ac.uk/genetics/collagen
15. Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem 2005;280:19259-69 Epub 2005 Feb 22
16. Pace JM, Kuslich CD, Willing MC, Byers PH. Disruption of one intrachain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta. J Med Genet 2001;38:443-449
17. Cabral WA, Ashok A, Makareeva E, Letocha AD, Scribanu N, Leikin S, Marini JC. Y position cysteine substitution in type I collagen [α1(I) R888C] is associated with type IV osteogenesis imperfecta. 9th International Conference on Osteogenesis Imperfecta, June 13-165 2005, Annapolis, Maryland, USA.
18. Reis FC, Alexandrino F, Steiner CE, Norato DY, Cavalcanti DP, Sartorato EL. Molecular findings in Brazilian patients with osteogenesis imperfecta. J Appl Genet 2005;46:105-108
19. Berg RA, Prockop DJ. The thermal transition of a non-hydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen. Biochem Biophys Res Commun 1973;1:115-120
20. Bateman JF, Lamande SR, Hannagan M, Moeller I, Dahl HH, Cole WG. Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta. Am J Med Genet 1993;45:233-240
21. Ganguly A. An update on conformation sensitive gel electrophoresis. Hum Mutat 2002;19:334-342
22. Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet 1998;62:98-110
23. McPherson E, Clemens M. Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. Am J Med Genet 1997;70:28-31
24. Frontali M, Stomeo C, Dallapiccola B. Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. Am J Med Genet 1985;22:35-47
25. Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med 2002;347:175-184
26. Cole DE, Carpenter TO. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr 1987;110:76-80
27. Byers PH. Brittle bones-fragile molecules: disorders of collagen gene structure and expression. Trends Genet 1990;6:293-300
28. Marini JC, Lewis MB, Wang Q, Chen KJ, Orrison BM. Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. J Biol Chem 1993;268:2667-2673
29. Di Lullo GA, Sweeney SM, Korkko J, Ala-Kokko L, San Antonio JD. Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen. J Biol Chem 2002 Feb 8; 277:4223-4231 Epub 2001 Nov 9
30. Wang Q, Orrison BM, Marini JC. Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype. J Biol Chem 1993;268:25162-25167
31. Zhuang J, Tromp G, Kuivaniemi H, Castells S, Prockop DJ. Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. Am J Med Genet 1996;61:111-116
32. Carrel AL, Allen DB. Effects of growth hormone on body composition and bone metabolism. Endocrine 2000;12:163-172
33. Antoniazzi F, Bertoldo F, Mottes M, Valli M, Sirpresi S, Zamboni G, Valentini R, Tato L. Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J Pediatr 1996;129:432-439
34. Antoniazzi F, Zamboni G, Bertoldo F, Lauriola S, Tato L. Bone development during GH and GnRH analog treatment. Eur J Endocrinol 2004;151:S47-S54
35. Gatti D, Antoniazzi F, Prizzi R, Braga V, Rossini M, Tato L, Viapiana O, Adami S. Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res 2005;20:758-763 Epub 2004 Dec 20
36. Le Blanc K, Gotherstrom C, Ringden O, Hassan M, McMahon R, Horwitz E, Anneren G, Axelsson O, Nunn J, Ewald U, Norden-Lindeberg S, Jansson M, Dalton A, Astrom E, Westgren M. Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation 2005;79:1607-1614
37. Horwitz EM, Prockop DJ, Fitzpatrick LA, Koo WW, Gordon PL, Neel M, Sussman W, Orchard P, Marx JC, Pyeritz RE, Brenner MK. Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 1999;5:309-313
38. Horwitz EM, Prockop DJ, Gordon PL, Koo WW, Fitzpatrick LA, Neel MD, McCarville ME, Orchard PJ, Pyeritz RE, Brenner MK. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001;97:1227-1231
39. Horwitz EM, Gordon PL, Koo WK, Marx JC, Neel MD, McNall RY, Muul L, Hofmann T. Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone. Proc Natl Acad Sci U S A 2002;99:8932-8937
40. Marini JC, Gerber NL. Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy. JAMA. 1997;277:746-750
41. Wang Q, Marini JC. Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders. J Clin Invest 1996;97:448-454
42. Dawson PA, Marini JC. Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts. Nucleic Acids Res 2000 Oct 15;28:4013-4020
43. Millington-Ward S, McMahon HP, Allen D, Tuohy G, Kiang AS, Palfi A, Kerma PF, Humphries P, Farrar GJ. RNAi of COL1A1 in mesenchymal progenitor cells. Eur J Hum Genet 2004;12:864-866
44. Niyibizi C, Wang S, Mi Z, Robbins PD. Gene therapy approaches for osteogenesis imperfecta. Gene Ther 2004;11:408-416