Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: A review of biochemical and molecular studies completed in 129 pregnancies

Prenatal Diagnosis

Volumn 17, Issue 6, 1997, Pages 559-570

  Pepin, Melanie ^a   Atkinson, Mary ^a   Starman, Barbra J ^a   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Biochemical studies; Chorionic villus; Molecular diagnosis; Osteogenesis imperfecta; Prenatal diagnosis

Indexed keywords

COLLAGEN TYPE 1;

ARTICLE; BIOCHEMISTRY; CELL CULTURE; CHORION VILLUS SAMPLING; COLLAGEN SYNTHESIS; CONTROLLED STUDY; DNA POLYMORPHISM; EMBRYO; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MOLECULAR BIOLOGY; OSTEOGENESIS IMPERFECTA; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK;

AMNIOCENTESIS; AMNIOTIC FLUID; CHORIONIC VILLI SAMPLING; COLLAGEN; DNA; FEMALE; HUMANS; OSTEOGENESIS IMPERFECTA; PEDIGREE; PREDICTIVE VALUE OF TESTS; PREGNANCY; RECURRENCE; RETROSPECTIVE STUDIES; RISK FACTORS;

EID: 0030983225     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199706)17:6<559::AID-PD111>3.0.CO;2-G     Document Type: Article

References (54)

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. Aylsworth, A.S., Seed, J.W., Guilford, W.B., Burns, C.B., Washburn, D.B. (1984). Prenatal diagnosis of a severe deforming type of osteogenesis imperfecta, Am. J. Med. Genet., 19, 707-714.
3. Barsh, G.S., David, K.E., Byers, P.H. (1982). Type I osteogenesis imperfecta: a nonfunctional allele for proα1(I) chains of type I procollagen, Proc. Natl. Acad. Sci. U.S.A., 79, 3838-3842.
4. Bonadio, J., Holbrook, K.A., Gelinas, R.E., Jacob, J., Byers, P.H. (1985). Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta, J. Biol. Chem., 260, 1734-1742.
5. Bonaventure, J., Cohen-Solal, L., Lasselin, C., Maroteaux, P. (1992). A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta, Hum. Genet., 89, 640-646.
6. Byers, P.H. (1993). Osteogenesis imperfecta. In: Royce, P.M., Steinmann, B. (Eds). Connective Tissue and Its Heritable Disorders, New York: Wiley-Liss, 317-350.
7. Byers, P.H. (1995). Disorders of collagen structure and synthesis. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Metabolic and Molecular Basis of Inherited Disease, 7th edn, New York: McGraw-Hill, 4029-4078.
8. Byers, P.H., Tsipouras, P., Bonadio, J.F., Starman, B.J., Schwarz, R.C. (1988). Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen, Am. J. Hum. Genet., 42, 237-248.
9. Chervenak, F.A., Romero, R., Berkowitz, R.L., Mahoney, M.J., Tortora, M., Mayden, K., Hobbins, J.C. (1982). Antenatal sonographic findings of osteogenesis imperfecta, Am. J. Obstet. Gynecol., 143, 228-230.
10. Cohen-Salal, L., Bonaventure, J., Maroteaux, P. (1991). Dominant mutation in familial lethal and severe osteogenesis imperfecta, Hum. Genet., 87, 297-301.
11. Cohn, D.H., Starman, B.J., Blumberg, B., Byers, P.H. (1990). 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., 46, 591-601.
12. Connor, J.M., Connor, R.A.C., Sweet, E.M., Gibson, A.A.M., Patrick, W.J.A., McNay, M.B., Redford, R.H.A. (1985). Lethal neonatal chondrodysplasia in the west of Scotland 1970-1983 with a description of a thanatophoric dysplasialike, autosomal recessive disorder, Glasgow variant, Am. J. Med. Genet., 22, 243-253.
13. Constantine, G., McCormack, J., McHugo, J., Fowlie, A. (1991). Prenatal diagnosis of severe osteogenesis imperfecta, Prenat. Diagn., 11, 103-110.
14. Crouch, E., Bornstein, P. (1978). Collagen synthesis by human amniotic fluid cells in culture: characterization of a procollagen with three identical proα1(I) chains, Biochemistry, 17, 5499-5509.
15. D'Alessio, M., Bernard, M., Pretorious, P., deWet, W., Ramirez, F. (1988). Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human proα1(I) collagen gene (COL1A1), Gene, 67, 105-115.
16. Dimaio, M.S., Barth, R., Koprivnikar, K.E., Sussman, B.L., Copel, J.A., Mahoney, M.J., Byers, P.H., Cohn, D.H. (1993). First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography, Prenat. Diagn., 13, 589-596.
17. Dinno, N.D., Yacoub, U.A., Kadlec, J.F., Garver, K.L. (1982). Midtrimester diagnosis of osteogenesis imperfecta, type II, Birth Defects: Orig. Artic. Ser., 18(3A), 125-132.
18. Edwards, M.J., Wenstrup, R.J., Byers, P.H., Cohn, D.H. (1992). Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mile form of the disease, Hum. Mutat., 1, 47-54.
19. Genovese, C., Rowe, D. (1987). Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta, Methods Enzymol., 145, 223-235.
20. Hoehn, H., Bryant, E.M., Karp, L.E., Martin, G.M. (1974). Cultivated cells from diagnostic amniocentesis in second trimester pregnancies. I. Conal morphology and growth potential, Pediatr. Res., 8, 746-754.
21. Lund A.M., Schwartz, M., Raghunath, M., Steinmann, B., Skovby, F. (1996). Gly802Asp substitution in the proα2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism, Eur. J. Hum. Genet., 4, 39-45.
22. Lynch, J. R., Ogilvie, D., Priestley, L., Baigrie, C., Smith, R., Farndon, P., Sykes, B. (1991). Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele, J. Med. Genet., 28, 145-150.
23. Mottes, M., Gomez-Lira, M.M., Valli, M., Scarano, G., Lonardo, F., Forlino, A., Cetta, G., Pignatti, P.F. (1993) Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta, Hum. Mutat., 2, 196-204.
24. Namikawa, C., Suzumore, K., Fukushima, Y., Sasaki, M., Hata, A. (1995). Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862→Ser substitution in a type I collagen gene (COL1A1), Hum. Genet., 95, 666-670.
25. Nicholls, A.C., Osse, G., Schloon, H.G., Lenard, H.G., Deak, S., Myers, J.C., Prockop, D.J., Weigel, W.R.F., Fryer, P., Pope, F.M. (1984). The clinical features of homozygous α2(I) deficient osteogenesis imperfecta, J. Med. Genet., 21, 257-262.
26. Ogilvie, D.J., Aitchison, K., Sykes, B.C. (1988). An RFLP close to the human collagen I gene COL1A1, Nucleic Acids Res., 15, 4699.
27. Orioli, I.M., Castilla, E.E., Barbosa-Neto, J.G. (1986). The birth prevalence rates for the skeletal dysplasias, J. Med. Genet., 23, 328-332.
28. Orioli, I.M., Castilla, E.E., Scarano, G., Mastroiacovo, P. (1995). Effect of paternal age in achondroplasia, thanatophoric dysplasia and osteogenesis imperfecta, Am. J. Med. Genet., 59, 209-217.
29. Pihlajaniemi, T., Dickson, L.A., Pope, F.M., Korhonen, V.R., Nicholls, A.C., Prockop, D.J., Myers, J.C. (1984). Osteogenesis imperfecta: cloning of a proα2(I) collagen gene with a frameshift mutation, J. Biol. Chem., 259, 12941-12 944.
30. Raghunath, M., Steinmann, B., Delozier-Blanchet, C., Extermann, P., Superti-Furga, A. (1994). Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies, Pediatr. Res., 36, 441-448.
31. Raghunath, M., Mackay, K., Dalgleish, R., Steinmann, B. (1995). Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation, Eur. J. Pediatr., 154, 123-129.
32. Redford-Badwal, D.A., Stover, M.L., Valli, M., McKinstry, M.B., Rowe, D.W. (1996). Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta, J. Clin. Invest., 97, 1035-1040.
33. Robinson, L.P., Worthen, N.J., Lachman, R.S., Adomian, G.E., Rimoin, D.L. (1987). Prenatal diagnosis of osteogenesis imperfecta type III, Prenat. Diagn., 7, 7-15.
34. Rowe, D., Shapiro, J., Poirier, M., Schlesinger, S. (1985). Diminished type I collagen synthesis and reduced α1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta, J. Clin. Invest., 76, 604-611.
35. Saiki, R.K., Gelfand, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, G.T., Mullis, K.B., Erlich, H.A. (1988). Primer-directed enzymatic amplification of DNA with a thermostable DNA-polymerase, Science, 239, 487-491.
36. Shapiro, J.E., Phillips, J.A., III, Byers, P.H., Sanders, R., Holbrook, K.A., Levin, L.S., Dorst, J., Barsh, G.S., Peterson, K.E., Goldstein, P. (1982). Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI type II), J. Pediatr., 100, 127-132.
37. Sillence, D.O., Senn, A., Danks, D.M. (1979). Genetic heterogeneity in osteogenesis imperfecta, J. Med. Genet., 16, 101-116.
38. Sillence, D.O., Barlow, K.K., Cole, W.G., Dietrich, S., Garber, A.P., Rimoin, D.L. (1986). Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. Am. J. Med. Genet., 23, 821-832.
39. Stover, M.L., Primorac, D., Liu, S.C., McKinstry, M.B., Rowe, D.W. (1993). Defective splicing of mRNA from one COL1A1 allele of type I collagen in non-deforming (type 1) osteogenesis imperfecta, J. Clin. Invest., 92, 1994-2002.
40. Sykes, B., Ogilvie, D., Wordsworth, P., Anderson, J., Jones, N. (1986). Osteogenesis imperfecta is linked to both type I collagen structural genes, Lancet, 2, 69-72.
41. Sykes, B., Ogilvie, D., Wordsworth, P., Wallis, G., Mathew, C., Beighton, P., Nichols, A., Pope, M., Thompson, E., Tsipouras, P., Schwartz, R., Jensson, O., Arnason, A., Borresen, A.-L., Heiberg, A., Frey, D., Steinmann, B. (1990). Consistent linkage of dominantly-inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2, Am. J. Hum. Genet., 46, 293-307.
42. Thompson, E.M. (1993). Non-invasive prenatal diagnosis of osteogenesis imperfecta, Am. J. Med. Genet., 45, 201-206.
43. Thompson, E.M., Young, I.D., Hall, C.M., Pembry, M.E. (1987). Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta, J. Med. Genet., 24, 390-405.
44. Thompson, E.M., Young, I.D., Hall, C.M., Pembry, M.E. (1988). Genetic counseling in perinatally lethal and severe progressively deforming osteogenesis imperfecta. Ann. NY Acad. Sci., 533, 142-156.
45. Tsipouras, P., Myers, J.C., Ramirez, F., Prockop, D.J. (1983). Restriction fragment length polymorphism associated with the proα2(I) gene of human type I procollagen: application to a family with an autosomal dominant form of osteogenesis imperfecta, J. Clin. Invest., 72, 1262-1267.
46. Tsipouras, P., Borresen, A.-L., Dickson, L.A., Berg, K., Prockop, D.J., Ramirez, F. (1984). Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta, Am. J. Hum. Genet., 36, 1172-1179.
47. Wallis, G., Beighton, P., Boyd, C., Mathew, C.G. (1986). Mutations linked to proα1(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I, J. Med. Genet., 23, 411-416.
48. Wallis, G.A., Sykes, B., Byers, P.H., Mathew, C.H., Viljoen, D., Beighton, P. (1993). Osteogenesis imperfecta type III: mutations in the type I collagen structural genes. COL1A1 and COL1A2, are not necessarily responsible, J. Med Genet., 34, 492-496.
49. Wenstrup, R.J., Willing, M.C., Starman, B.J., Byers, P.H. (1990). Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta, Am. J. Hum. Genet., 46, 975-982.
50. Wijsman, E. (1991). Recurrence risk of a new dominant mutation in children of unaffected parents. Am. J. Hum. Genet., 48, 654-661.
51. Willing, M.C., Cohn, D.H., Byers, P.H. (1990). Frameshift mutation near the 3′ end of the COL1A1 gene of type I collagen predicts an elongated proα1(I) chain and results in osteogenesis imperfecta type I, J. Clin. Invest., 85, 282-290.
52. Willing, M.C., Pruchno, C.J., Atkinson, M., Byers, P.H. (1992). Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am. J. Hum. Genet., 51, 508-515.
53. Willing, M.C., Deschenes, S.P., Scott, D.A., Byers, P.H., Slayton, R.L., Pitts, S.H., Arikat, H., Roberts, E.J. (1994). Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen, Am. J. Hum. Genet., 55, 638-647.
54. Young, I.D., Thompson, E.M., Hall, C.M., Pembry, M.E. (1987). Osteogenesis imperfecta type IIA: evidence for dominant inheritance, J. Med. Genet., 24, 386-389.