Osteogenesis imperfecta: Rehabilitation and prospects for gene therapy

JAMA

Volumn 277, Issue 9, 1997, Pages 746-750

  Marini, Joan C ^a   Gerber, Naomi Lynn ^b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; DISEASE CLASSIFICATION; DISEASE COURSE; DOMINANT INHERITANCE; FEMALE; GENE STRUCTURE; GENE THERAPY; GENETICS; HORMONAL THERAPY; HUMAN; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; RECESSIVE INHERITANCE; TREATMENT INDICATION;

EID: 0031043695     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.277.9.746     Document Type: Article

References (21)

1. Binder H, Hawks L, Graybill G, Gerber NL, Weintrob JC. Osteogenesis imperfecta: rehabilitation approach with infants and young children. Arch Phys Med Rehabil 1984;65:537-541.
2. Byers PH. Osteogenesis imperfecta. In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. 10th ed. New York, NY: John Wiley & Sons Inc; 1993:317-350.
3. Kielty CM, Hopkinson I, Grant ME. Collagen: the collagen family: structure, assembly, and organization in the extracellular matrix. In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. 3rd ed. New York, NY: John Wiley & Sons Inc; 1993:103-147.
4. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in Osteogenesis imperfecta. J Med Genet. 1979;16:101-116.
5. Marini JC. Osteogenesis imperfecta: comprehensive management. Adv Pediatr. 1988;35:391-426.
6. Charnas LR, Marini JC. Communicating hydrocephalus, basilar invagination, and other neurologic features in Osteogenesis imperfecta. Neurology. 1993;43:2603-2608.
7. Byers PH, Wallis GA, Willing MC. OI: translation of mutation to phenotype. J Med Genet. 1991; 28:433-442.
8. Willing, MC, Deschenes SP, Slayton RL, Roberts E. Premature chain termination is a unifying mechanism for COL1A1 null allele in osteogenesis imperfecta type I cell strains. Am J Hum Genet. 1996;59:799-809.
9. Cohn DH, Starman BJ, Blumberg B, Byers PH. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet. 1990;46:591-601.
10. Folio MR, Fewell RR. Peabody Developmental Motor Scales. Itasca, Ill: Riverside Press; 1983.
11. Bleck EE. Nonoperative treatment of osteogenesis imperfecta: orthotic and mobility management. Clin Orthop. 1981;159:111-122.
12. Gerber LH, Binder H, Weintrob J, et al. Rehabilitation of children and infants with osteogenesis imperfecta: a program for ambulation. Clin Orthop. 1990;251:254-260.
13. Marini JC, Bordenick S, Heavner G, Rose S, Chrousos GP. Evaluation of growth hormone axis and responsiveness to growth stimulation in short children with osteogenesis imperfecta. Am J Med Genet. 1993;45:261-264.
14. Marini JC, Bordenick S, Heavner G, et al. The growth hormone and somatomedin axis in short children with osteogenesis imperfecta. J Clin Endocrinol Metab. 1993;76:251-256.
15. Haskins M, Chieffo C, Wang P, Just C, Evans S, Aguirre G. Bone marrow transplantation in canine mucopolysaccharidosis VI (beta-glucuronidase deficiency). Am J Hum Genet. 1991;49:A435.
16. Fedde KN, Blair L, Terzic F, et al. Amelioration of the skeletal disease in hypophosphatasia by bone marrow transplantation using the alkaline phosphatase-knockout mouse model. Am J Hum Genet. 1996;59:A15.
17. Pereira RF, Halford KW, O'Hara MD, et al. Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice. Proc Natl Acad Sci U S A. 1995;92:4857-4861.
18. Woolf TM, Jennings CGB, Rebagliati M, Melton DA. The stability, toxicity and effectiveness of unmodified and phosphorothioate antisense oligodeoxynucleotides in Xenopus oocytes and embryos. Nucleic Acids Res. 1990;18:1763-1769.
19. Taylor NR, Kaplan B, Swiderski P, Li H, Rossi JJ. Chimeric DNA-RNA hammerhead ribozymes have enhanced in vitro catalytic efficiency and increased stability in vivo. Nucleic Acids Res. 1992; 20:4559-4565.
20. Wang Q, Marini JC. Antisense oligodeoxynucleotides selectively suppress expression of the mutant α2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. J Clin Invest. 1996;97:448-454.
21. +1→A mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband. Hum Mutat. 1993;2:380-388.