A scoring system for the assessment of clinical severity in osteogenesis imperfecta

Journal of Children's Orthopaedics

Volumn 6, Issue 1, 2012, Pages 29-35

  Aglan, Mona S ^a   Hosny, Laila ^a   El Houssini, Rasha ^a   Abdelhadi, Sawsan ^b   Salem, Fadia ^b   ElBanna, Rokia A S ^a   Awad, Seham A ^c   Zaki, Moushira E ^a   Temtamy, Samia A ^a  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b CAIRO UNIVERSITY   (Egypt)

^c RESEARCH INSTITUTE OF OPHTHALMOLOGY   (Egypt)

Author keywords

Clinical scoring system; Genetics; Osteogenesis imperfecta; Radiological manifestations; Sillence classification

Indexed keywords

EID: 84858289921     PISSN: 18632521     EISSN: 18632548     Source Type: Journal    
DOI: 10.1007/s11832-012-0385-3     Document Type: Article

References (32)

1. Martin E, Shapiro JR (2007) Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 5: 91-97.
2. Blumsohn A, McAllion SJ, Paterson CR (2001) Excess paternal age in apparently sporadic osteogenesis imperfecta. Am J Med Genet 100: 280-286.
3. Cabral WA, Marini JC (2004) High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet 74: 752-760.
4. Marini JC, Cabral WA, Barnes AM (2010) Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res 339: 59-70.
5. Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC (2006) Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 355: 2757-2764.
6. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B (2006) CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127: 291-304.
7. Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC (2007) Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 39: 359-365. Erratum: Nat Genet 40: 927, 2008.
8. Drögemüller C, Becker D, Brunner A, Haase B, Kircher P, Seeliger F, Fehr M, Baumann U, Lindblad-Toh K, Leeb T (2009) A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 5: e1000579.
9. van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PGJ, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MHH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G (2009) PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 85: 521-527.
10. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D (2010) Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86: 551-559.
11. Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH (2010) Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 86: 389-398.
12. Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C (2011) Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 88: 362-371.
13. Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL (2010) Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet 87: 110-114.
14. Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL (2012) Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 33: 343-350. doi: 10. 1002/humu. 21647.
15. Falvo KA, Root L, Bullough PG (1974) Osteogenesis imperfecta: clinical evaluation and management. J Bone Joint Surg Am 56: 783-793.
16. Bauze RJ, Smith R, Francis MJ (1975) A new look at osteogenesis imperfecta. a clinical, radiological and biochemical study of forty-two patients. J Bone Joint Surg Am 57: 2-12.
17. Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101-116.
18. Hanscom DA, Winter RB, Lutter L, Lonstein JE, Bloom BA, Bradford DS (1992) Osteogenesis imperfecta. Radiographic classification, natural history, and treatment of spinal deformities. J Bone Joint Surg Am 74: 598-616.
19. Plotkin H (2004) Syndromes with congenital brittle bones. BMC Pediatr 4: 16.
20. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A (2011) Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A: 943-968.
21. Online Mendelian Inheritance in Man (OMIM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD), and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Home page at: http://www. ncbi. nlm. nih. gov/omim.
22. van Dijk FS, Pals G, van Rijn RR, Nikkels PG, Cobben JM (2010) Classification of osteogenesis imperfecta revisited. Eur J Med Genet 53: 1-5.
23. Daly K, Wisbeach A, Sanpera I Jr, Fixsen JA (1996) The prognosis for walking in osteogenesis imperfecta. J Bone Joint Surg Br 78: 477-480.
24. Ghalli I, Salah N, Hussien F, Erfan M, El-Ruby M, Mazen I, Aglan MS, Hosny L, Zaki M, Ismail S, Elgammal M, Abd El-Dayem S et al. In: Sartorio A, Buckler JMH, Marazzi N (eds) Proceedings of the 1st National Congress for Egyptian Growth Curves, Cairo University, Cairo, Egypt, 11 December 2003. Published in Cresceve Nelmondo (2008). Ferring Company. Egyptian Growth Curves 2002 for Infants, Children and Adolescents.
25. Chavassieux P, Seeman E, Delmas PD (2007) Insights into material and structural basis of bone fragility from diseases associated with fractures: how determinants of the biomechanical properties of bone are compromised by disease. Endocr Rev 28: 151-164.
26. Rauch F, Lalic L, Roughley P, Glorieux FH (2010) Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet 18: 642-647.
27. Ruck-Gibis J, Plotkin H, Hanley J, Wood-Dauphinee S (2001) Reliability of the gross motor function measure for children with osteogenesis imperfecta. Pediatr Phys Ther 13: 10-17.
28. Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs H, Helders PJ (2000) Osteogenesis imperfecta in childhood: prognosis for walking. J Pediatr 137: 397-402.
29. National Institutes of Health (NIH) Clinical Center (CC) (2007) Growth Hormone Therapy in Osteogenesis Imperfecta. National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, MD, prpl@mail. cc. nih. gov.
30. Lund AM, Müller J, Skovby F (1999) Anthropometry of patients with osteogenesis imperfecta. Arch Dis Child 80: 524-528.
31. Rowe DW, Shapiro JR, Poirier M, Schlesinger S (1985) Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta. J Clin Invest 76: 604-611.
32. Rauch F, Lalic L, Roughley P, Glorieux FH (2010) Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res 25: 1367-1374.