PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1991 July; 28(7): 433–442.
PMCID: PMC1016951

Osteogenesis imperfecta: translation of mutation to phenotype.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.6M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101–116. [PMC free article] [PubMed]
  • Prockop DJ, Constantinou CD, Dombrowski KE, Hojima Y, Kadler KE, Kuivaniemi H, Tromp G, Vogel BE. Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue. Am J Med Genet. 1989 Sep;34(1):60–67. [PubMed]
  • Cohn DH, Byers PH, Steinmann B, Gelinas RE. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A. 1986 Aug;83(16):6045–6047. [PubMed]
  • Constantinou CD, Nielsen KB, Prockop DJ. A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen. J Clin Invest. 1989 Feb;83(2):574–584. [PMC free article] [PubMed]
  • Vogel BE, Minor RR, Freund M, Prockop DJ. A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. J Biol Chem. 1987 Oct 25;262(30):14737–14744. [PubMed]
  • Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM, Jr, Byers PH. Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. J Clin Invest. 1989 Oct;84(4):1206–1214. [PMC free article] [PubMed]
  • Pack M, Constantinou CD, Kalia K, Nielsen KB, Prockop DJ. Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. J Biol Chem. 1989 Nov 25;264(33):19694–19699. [PubMed]
  • Bateman JF, Chan D, Walker ID, Rogers JG, Cole WG. Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. J Biol Chem. 1987 May 25;262(15):7021–7027. [PubMed]
  • Wallis GA, Starman BJ, Zinn AB, Byers PH. Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. Am J Hum Genet. 1990 Jun;46(6):1034–1040. [PubMed]
  • Bateman JF, Lamande SR, Dahl HH, Chan D, Cole WG. Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. J Biol Chem. 1988 Aug 25;263(24):11627–11630. [PubMed]
  • Wallis GA, Starman BJ, Schwartz MF, Byers PH. Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion. J Biol Chem. 1990 Oct 25;265(30):18628–18633. [PubMed]
  • Lamande SR, Dahl HH, Cole WG, Bateman JF. Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. J Biol Chem. 1989 Sep 25;264(27):15809–15812. [PubMed]
  • Patterson E, Smiley E, Bonadio J. RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation. J Biol Chem. 1989 Jun 15;264(17):10083–10087. [PubMed]
  • 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 Mar;46(3):591–601. [PubMed]
  • Baldwin CT, Constantinou CD, Dumars KW, Prockop DJ. A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix. J Biol Chem. 1989 Feb 15;264(5):3002–3006. [PubMed]
  • Wenstrup RJ, Cohn DH, Cohen T, Byers PH. Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. J Biol Chem. 1988 Jun 5;263(16):7734–7740. [PubMed]
  • Tsipouras P, Myers JC, Ramirez F, Prockop DJ. Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest. 1983 Oct;72(4):1262–1267. [PMC free article] [PubMed]
  • Wallis G, Beighton P, Boyd C, Mathew CG. Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. J Med Genet. 1986 Oct;23(5):411–416. [PMC free article] [PubMed]
  • Sykes B, Ogilvie D, Wordsworth P, Anderson, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet. 1986 Jul 12;2(8498):69–72. [PubMed]
  • Sykes B, Ogilvie D, Wordsworth P, Wallis G, Mathew C, Beighton P, Nicholls A, Pope FM, Thompson E, Tsipouras P, et al. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet. 1990 Feb;46(2):293–307. [PubMed]
  • Bonadio J, Ramirez F, Barr M. An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II. J Biol Chem. 1990 Feb 5;265(4):2262–2268. [PubMed]
  • Tromp G, Prockop DJ. Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain. Proc Natl Acad Sci U S A. 1988 Jul;85(14):5254–5258. [PubMed]
  • Kuivaniemi H, Sabol C, Tromp G, Sippola-Thiele M, Prockop DJ. A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother. J Biol Chem. 1988 Aug 15;263(23):11407–11413. [PubMed]
  • Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem. 1988 Jun 25;263(18):8561–8564. [PubMed]
  • Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D, Bateman JF. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. EMBO J. 1989 Jun;8(6):1705–1710. [PubMed]
  • Cohn DH, Apone S, Eyre DR, Starman BJ, Andreassen P, Charbonneau H, Nicholls AC, Pope FM, Byers PH. Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta. J Biol Chem. 1988 Oct 15;263(29):14605–14607. [PubMed]
  • Chu ML, Gargiulo V, Williams CJ, Ramirez F. Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J Biol Chem. 1985 Jan 25;260(2):691–694. [PubMed]
  • Willing MC, Cohn DH, Starman B, Holbrook KA, Greenberg CR, Byers PH. Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem. 1988 Jun 15;263(17):8398–8404. [PubMed]
  • Pihlajaniemi T, Dickson LA, Pope FM, Korhonen VR, Nicholls A, Prockop DJ, Myers JC. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol Chem. 1984 Nov 10;259(21):12941–12944. [PubMed]
  • Bateman JF, Lamande SR, Dahl HH, Chan D, Mascara T, Cole WG. A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta. J Biol Chem. 1989 Jul 5;264(19):10960–10964. [PubMed]
  • Willing MC, Cohn DH, Byers PH. Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. J Clin Invest. 1990 Jan;85(1):282–290. [PMC free article] [PubMed]
  • Nicholls AC, Osse G, Schloon HG, Lenard HG, Deak S, Myers JC, Prockop DJ, Weigel WR, Fryer P, Pope FM. The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. J Med Genet. 1984 Aug;21(4):257–262. [PMC free article] [PubMed]
  • Barsh GS, David KE, Byers PH. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. Proc Natl Acad Sci U S A. 1982 Jun;79(12):3838–3842. [PubMed]
  • Genovese C, Rowe D. Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta. Methods Enzymol. 1987;145:223–235. [PubMed]
  • Vogel BE, Doelz R, Kadler KE, Hojima Y, Engel J, Prockop DJ. A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away. J Biol Chem. 1988 Dec 15;263(35):19249–19255. [PubMed]
  • Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. 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. 1988 Feb;42(2):237–248. [PubMed]
  • Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet. 1990 May;46(5):975–982. [PubMed]
  • de Wet WJ, Pihlajaniemi T, Myers J, Kelly TE, Prockop DJ. Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta. J Biol Chem. 1983 Jun 25;258(12):7721–7728. [PubMed]
  • Aitchison K, Ogilvie D, Honeyman M, Thompson E, Sykes B. Homozygous osteogenesis imperfecta unlinked to collagen I genes. Hum Genet. 1988 Mar;78(3):233–236. [PubMed]
  • Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL. Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet. 1986 Mar;23(3):821–832. [PubMed]
  • Young ID, Thompson EM, Hall CM, Pembrey ME. Osteogenesis imperfecta type IIA: evidence for dominant inheritance. J Med Genet. 1987 Jul;24(7):386–389. [PMC free article] [PubMed]
  • Superti-Furga A, Steinmann B, Ramirez F, Byers PH. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Hum Genet. 1989 May;82(2):104–108. [PubMed]
  • Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 1990 Jun 8;248(4960):1224–1227. [PubMed]
  • Shapiro JR, Rowe DW. Collagen genes and brittle bones. Ann Intern Med. 1983 Nov;99(5):700–704. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group