{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:24:26Z","timestamp":1791926666649,"version":"4.3.4"},"reference-count":40,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:p>Most forms of osteogenesis imperfecta are caused by dominant mutations in either of the two genes, COL1A1 and COL1A2, that encode the pro alpha 1(I) and pro alpha 2(I) chains of type I collagen, respectively. However, a severe, autosomal recessive form of OI type III with a comparatively high frequency has been recognised in the black populations of southern Africa. We preformed linkage analyses in eight OI type III families using RFLPs associated with the COL1A1 and COL1A2 loci to determine whether mutations in the genes for type I collagen were responsible for this form of OI. Recombination between the OI phenotype and polymorphic markers at both loci was shown in three of the eight families investigated. The combined lod scores for the eight families were -10.6 for COL1A1 and -11.2 for COL1A2. Further, we examined the type I procollagen produced by skin fibroblast cultures derived from 15 affected and 12 unaffected subjects from the above eight families plus one further family. We found no evidence for defects in the synthesis, structure, secretion, or post-translational modification of the chains of type I procollagen produced by any of the family members. These results suggest that mutations within or near the type I collagen structural genes are not responsible for this form of OI.<\/jats:p>","DOI":"10.1136\/jmg.30.6.492","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"492-496","source":"Crossref","is-referenced-by-count":51,"title":["Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible."],"prefix":"10.1136","volume":"30","author":[{"given":"G A","family":"Wallis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Sykes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P H","family":"Byers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C G","family":"Mathew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Viljoen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Beighton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. Med Genet 1979;16:101-16.","journal-title":"Med Genet"},{"key":"ref_2","first-page":"2805","article-title":"Disorders of collagen biosynthesis and structure","volume-title":"The metabolic basis of inherited disease","author":"Byers, P.H.","year":"1989","unstructured":"Byers PH. Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill, 1989:2805-42.","edition":"6th ed"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/ajmg.1320230309","article-title":"Osteogenesis imperfecta type III: delineation of the phenotype with reference to genetic heterogeneity","volume":"23","author":"Sillence, D.O.; Barlow, K.K.; Cole, W.G.; Dietrich, S.; Garber, A.P.; Rimoin, D.L.","year":"1986","unstructured":"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;23:821-32.","journal-title":"Am J Med Genet"},{"key":"ref_4","first-page":"975","article-title":"Molecular basis of clinical heterogeneity in nonlethal variants of osteogenesis imperfecta: distinct biochemical phenotypes predict clinical severity","volume":"46","author":"Wenstrup, R.J.; Willing, M.C.; Starman, B.J.; Byers, P.H.","year":"1990","unstructured":"Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Molecular basis of clinical heterogeneity in nonlethal variants of osteogenesis imperfecta: distinct biochemical phenotypes predict clinical severity. 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Clin Invest 1989;84:1206-14.","journal-title":"Clin Invest"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/BF01213088","article-title":"Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COLlAl gene of type I collagen","volume":"87","author":"Pruchno, C.J.; Cohn, D.H.; Wallis, G.A.","year":"1991","unstructured":"Pruchno CJ, Cohn DH, Wallis GA, et al. Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COLlAl gene of type I collagen. Hum Genet 1991;87:33-40.","journal-title":"Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1016\/S0021-9258(18)52286-9","article-title":"The effects of different cysteine for glycine substitutions within o2(I) chains: evidence of distinct structural domains within the type I collagen triple helix","volume":"266","author":"Wenstrup, R.J.; Shrago-Howe, A.W.; Lever, L.W.; Phillips, C.L.; Byers, P.H.; Cohn, D.H.","year":"1991","unstructured":"Wenstrup RJ, Shrago-Howe AW, Lever LW, Phillips CL, Byers PH, Cohn DH. The effects of different cysteine for glycine substitutions within o2(I) chains: evidence of distinct structural domains within the type I collagen triple helix. J7 Biol Chem 1991;266:2590-4.","journal-title":"J7 Biol Chem"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"19694","DOI":"10.1016\/S0021-9258(19)47168-8","article-title":"Substitution of serine for al(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen","volume":"264","author":"Pack, M.; Constantinou, C.D.; Kalia, K.; Nielsen, K.B.; Prockop, D.J.","year":"1989","unstructured":"Pack M, Constantinou CD, Kalia K, Nielsen KB, Prockop DJ. Substitution of serine for al(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. J Biol Chem 1989;264: 19694-9.","journal-title":"J Biol Chem"},{"key":"ref_9","first-page":"48","article-title":"Type I collagen mutation in osteogenesis imperfecta and inherited osteoporosis. Fourth International Conference on Osteogenesis Imperfecta","author":"Nicholls, A.C.; Oliver, J.; Renouf, D.; Pope, F.M.","year":"1990","unstructured":"Nicholls AC, Oliver J, Renouf D, Pope FM. Type I collagen mutation in osteogenesis imperfecta and inherited osteoporosis. Fourth International Conference on Osteogenesis Imperfecta, Pavia, Italy, 9-12 September 1990. Abstract, 1990:48.","journal-title":"Abstract"},{"key":"ref_10","first-page":"236","article-title":"Serine for glycine substitutions in the al(I) chain of type I collagen: biological plasticity in the gly-pro-hyp clamp at the carboxylterminal end of the triple helical domain","volume":"10","author":"Cohn, D.H.; Wallis, G.; Zhang, X.; Byers, P.H.","year":"1990","unstructured":"Cohn DH, Wallis G, Zhang X, Byers PH. Serine for glycine substitutions in the al(I) chain of type I collagen: biological plasticity in the gly-pro-hyp clamp at the carboxylterminal end of the triple helical domain. 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S Afr Med Jf 1983;64:656-8.","journal-title":"S Afr Med Jf"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1111\/j.1399-0004.1985.tb02282.x","article-title":"On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa","volume":"27","author":"Beighton, P.; Versfeld, G.","year":"1985","unstructured":"Beighton P, Versfeld G. On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. Clin Genet 1985;27:398-401.","journal-title":"Clin Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1002\/ajmg.1320270417","article-title":"Osteogenesis imperfecta type III: an ancient mutation in Africa?","volume":"27","author":"Viljoen, D.; Beighton, P.","year":"1987","unstructured":"Viljoen D, Beighton P. Osteogenesis imperfecta type III: an ancient mutation in Africa? 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J Clin Invest 1983;72: 1262-7.","journal-title":"J Clin Invest"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1136\/jmg.22.3.182","article-title":"Polymorphism of DNA sequence in the human proa2(I) collagen gene","volume":"22","author":"Grobler-Rabie, A.F.; Brebner, D.K.; Vandenplas, S.","year":"1985","unstructured":"Grobler-Rabie AF, Brebner DK, Vandenplas S, et al. Polymorphism of DNA sequence in the human proa2(I) collagen gene. JfMed Genet 1985;22:182-6.","journal-title":"JfMed Genet"},{"key":"ref_22","first-page":"69","article-title":"Osteogenesis imperfecta is linked to both type I collagen structural genes","volume":"ii:","author":"Sykes, B.C.; Ogilvie, D.J.; Wordsworth, B.P.; Anderson, D.J.; Jones, N.","year":"1986","unstructured":"Sykes BC, Ogilvie DJ, Wordsworth BP, Anderson DJ, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet 1986;ii:69-72.","journal-title":"Lancet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1136\/jmg.21.3.164","article-title":"Blot hybridisation analysis of genomic DNA","volume":"21","author":"Vandenplas, S.; Wiid, I.; Grobler-Rabie, A.","year":"1984","unstructured":"Vandenplas S, Wiid I, Grobler-Rabie A, et al. Blot hybridisation analysis of genomic DNA. J Med Genet 1984;21: 164-72.","journal-title":"J Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"13816","DOI":"10.1016\/S0021-9258(18)33521-X","article-title":"Copy number of a human type I a2 collagen gene","volume":"257","author":"Dalgleish, R.; Trapnell, B.C.; Crystal, R.G.; Tolstoshev, P.","year":"1982","unstructured":"Dalgleish R, Trapnell BC, Crystal RG, Tolstoshev P. Copy number of a human type I a2 collagen gene. J Biol Chem 1982;257:13816-22.","journal-title":"J Biol Chem"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/1523-1747.ep12260213","article-title":"Isolation and characterization of a human prooa2(I) collagen gene segment","volume":"82","author":"Tajima, S.; Ting, J.P.Y.; Pinnell, SR, Kaufman; R.E.","year":"1984","unstructured":"Tajima S, Ting JPY, Pinnell SR, Kaufman RE. Isolation and characterization of a human prooa2(I) collagen gene segment. J Invest Dermatol 1984;82:265-9.","journal-title":"J Invest Dermatol"},{"key":"ref_26","first-page":"1745","article-title":"Detection of a high frequency RsaI polymorphism associated with the proa2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta","volume":"7","author":"Grobler-Rabie, A.F.; Wallis, G.; Brebner, D.K.; Beighton, P.; Mathew, C.G.","year":"1985","unstructured":"Grobler-Rabie AF, Wallis G, Brebner DK, Beighton P, Mathew CG. Detection of a high frequency RsaI polymorphism associated with the proa2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J7 1985;4:1745-8.","journal-title":"EMBO"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"4315","DOI":"10.1093\/nar\/19.15.4315","article-title":"PCR detection of five restriction site dimorphisms at the type I collagen loci COLlAl and COL1A2","volume":"19","author":"Baker, J.L.; Lynch, J.; Priestley, L.; Sykes, B.","year":"1991","unstructured":"Baker JL, Lynch J, Priestley L, Sykes B. PCR detection of five restriction site dimorphisms at the type I collagen loci COLlAl and COL1A2. Nucleic Acids Res 1991;19:4315.","journal-title":"Nucleic Acids Res"},{"key":"ref_28","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop, G.M.; Lalouel, J.M.","year":"1984","unstructured":"Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.","journal-title":"Am J Hum Genet"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1016\/S0021-9258(18)89655-7","article-title":"Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta","volume":"260","author":"Bonadio, J.; Holbrook, K.A.; Gelinas, R.E.; Jacob, J.; Byers, P.H.","year":"1985","unstructured":"Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J7 Biol Chem 1985;260: 1734-42.","journal-title":"J7 Biol Chem"},{"key":"ref_30","first-page":"5142","article-title":"Reduced secretion of structurally abnormal type I procollagen in a form","volume-title":"of osteogenesis imperfecta. Proc Natl Acad Sci USA","volume":"78","author":"Barsh, G.S.; Byers, P.H.","year":"1981","unstructured":"Barsh GS, Byers PH. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc Natl Acad Sci USA 1981;78:5142-6."},{"key":"ref_31","first-page":"739809","article-title":"Clinical screening for collagen defects in connective tissue diseases","volume":"17","author":"Cohn, D.H.; Byers, P.H.","year":"1990","unstructured":"Cohn DH, Byers PH. Clinical screening for collagen defects in connective tissue diseases. Clin Perinatol 1990;17:739809.","journal-title":"Clin Perinatol"},{"key":"ref_32","first-page":"237","article-title":"Perinatal lethal osteogenesis imperfecta (OItype II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. AmJ7 Hum Genet","volume":"42","author":"Byers, P.H.; Tsipouras, P.; Bonadio, J.F.; Starman, B.J.; Schwartz, R.C.","year":"1988","unstructured":"Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. Perinatal lethal osteogenesis imperfecta (OItype II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. AmJ7 Hum Genet 1988;42:237-48."},{"key":"ref_33","first-page":"293","article-title":"Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COLlAl and COL1A2. AmJ7 Hum Genet","volume":"46","author":"Sykes, B.C.; Ogilvie, D.J.; Wordsworth, B.P.","year":"1990","unstructured":"Sykes BC, Ogilvie DJ, Wordsworth BP, et al. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COLlAl and COL1A2. AmJ7 Hum Genet 1990;46:293-307."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.28.7.433","article-title":"Osteogenesis imperfecta: translation of mutation to phenotype","volume":"28","author":"Byers, P.H.; Wallis, G.A.; Willing, M.C.","year":"1991","unstructured":"Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433-42.","journal-title":"J Med Genet"},{"key":"ref_35","first-page":"591","article-title":"Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COLlAI)","volume":"46","author":"Cohn, D.H.; Starman, B.J.; Blumberg, B.; Byers, P.H.","year":"1990","unstructured":"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 (COLlAI). Am Hum Genet 1990;46:591-601.","journal-title":"Am Hum Genet"},{"key":"ref_36","first-page":"47","article-title":"Germline and somatic mosaicism in osteogenesis imperfecta. Fourth International Conference on Osteogenesis Imperfecta","author":"Cohn, D.H.; Wallis, G.A.; Edwards, M.J.; Starman, B.J.; Byers, P.H.","year":"1990","unstructured":"Cohn DH, Wallis GA, Edwards MJ, Starman BJ, Byers PH. Germline and somatic mosaicism in osteogenesis imperfecta. Fourth International Conference on Osteogenesis Imperfecta, Pavia, Italy, 9-12 September 1990. Abstract, 1990:47.","journal-title":"Abstract"},{"key":"ref_37","first-page":"1034","article-title":"Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the al(I) gene COLlAl of type I collagen in a parent","volume":"46","author":"Wallis, G.A.; Starman, B.J.; Zinn, A.B.; Byers, P.H.","year":"1990","unstructured":"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 al(I) gene COLlAl of type I collagen in a parent. Am Hum Genet 1990;46:1034-40.","journal-title":"Am Hum Genet"},{"key":"ref_38","first-page":"297","article-title":"Dominant mutations in familial lethal and severe osteogenesis imperfecta","volume":"87","author":"Cohen-Solal, L.; Bonaventure, J.; Maroteaux, P.","year":"1991","unstructured":"Cohen-Solal L, Bonaventure J, Maroteaux P. Dominant mutations in familial lethal and severe osteogenesis imperfecta. Hum Genet 1991;87:297-301.","journal-title":"Hum Genet"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"7021","DOI":"10.1016\/S0021-9258(18)48196-3","article-title":"Lethal perinatal osteogenesis imperfecta due to substitution of arginine for glycine at residue 664 in the collagen al(I) chains of type I collagen","volume":"262","author":"Bateman, J.F.; Chan, D.; Walker, I.D.; Rogers, J.G.; Cole, W.G.","year":"1987","unstructured":"Bateman JF, Chan D, Walker ID, Rogers JG, Cole WG. Lethal perinatal osteogenesis imperfecta due to substitution of arginine for glycine at residue 664 in the collagen al(I) chains of type I collagen. Biol Chem 1987;262:7021-7.","journal-title":"Biol Chem"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"207","DOI":"10.3109\/07853899109148050","article-title":"Matrix in cartilage and bone development: current views on the function and regulation of major organic components","volume":"23","author":"Sandberg, M.M.","year":"1991","unstructured":"Sandberg MM. Matrix in cartilage and bone development: current views on the function and regulation of major organic components. Ann Med 1991;23:207-17.","journal-title":"Ann Med"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.6.492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:06:41Z","timestamp":1760774801000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.6.492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6]]},"references-count":40,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1993,6,1]]},"published-print":{"date-parts":[[1993,6]]}},"alternative-id":["10.1136\/jmg.30.6.492"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.6.492","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6]]}}}