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[PubMed: 3049731, related citations] Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta. J. Med. [PubMed: 3383844] Chem. [Full Text: https://doi.org/10.1002/ajmg.a.32653], Forlino, A., Keene, D. R., Schmidt, K., Marini, J. C. Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (1973) and Steinmann et al. [PubMed: 7881420] 37: 502 only, 1984. Mild pectus carinatum was present, as well as long slender limbs with increased mobility in all joints except the fourth and fifth fingers which bilaterally showed marked camptodactyly. Synthetic collagen heterotrimers: structural mimics of wild-type and mutant collagen type I. (2009) identified a gly1090-to-asp (G1090D) substitution in exon 49 of the COL1A2 gene. The mutant allele had a single base substitution which caused efficient splicing of RNA from the last codon of exon 27 to the first codon of exon 29, completely excluding exon 28. [Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5], Nicholls, A. C., Oliver, J., Renouf, D. V., Heath, D. A., Pope, F. M. 267: 6361-6369, 1992. [PubMed: 6825474] J. Hum. [Full Text], Zolezzi, F., Valli, M., Clementi, M., Mammi, I., Cetta, G., Pignatti, P. F., Mottes, M. [Full Text: http://www.jbc.org/cgi/pmidlookup?view=long&pmid=3403536], Kuivaniemi, H., Tromp, G., Chu, M.-L., Prockop, D. J. [Full Text], Trummer, T., Brenner, R., Just, W., Vogel, W., Kennerknecht, I. N.Y. Acad. In a 32-year-old woman with Ehlers-Danlos syndrome type VIIB (EDSARTH2; 617821), Carr et al. Nucleic Acids Res. 261: 10006-10014, 1986. Carr, A. J., Chiodo, A. An affected brother was similarly affected. [PubMed: 7749416, related citations] (1998) and Vomund et al. 264: 16804-16809, 1989. [PubMed: 18481852, related citations] J. Biol. [PubMed: 8950681, related citations] Her height was 164.5 cm, span 178 cm, upper segment to lower segment ratio 0.80. [Full Text: https://dx.doi.org/10.1007/s004390051004], Rauch, F., Lalic, L., Roughley, P., Glorieux, F. H. [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=2052622], Spotila, L. D., Sereda, L., Prockop, D. J. 77: 6179-6183, 1980. In an extensive review of published and unpublished sources, Marini et al. [PubMed: 1551666, related citations] After casting of her legs and learning to walk, however, her lower limbs showed dramatic improvement which had been maintained. Perforation of the femoral artery and vein occurred in the course of preoperative diagnostic cardiac catheterization, and the cardiac surgeon described the tissues as extremely soft. Genet. The findings suggested that the order of intron removal is an important variable in prediction of the outcome of mutation at splice sites and that folding of the nascent mRNA could be 1 element that contributes to determination of order of splicing. Phillips, C. L., Shrago-Howe, A. W., Pinnell, S. R., Wenstrup, R. J. Acad. Hum. Thus, the UPD was probably the result of fertilization of a maternal gamete disomic for chromosome 7, with either a nullisomic sperm or a normal sperm followed by loss of the paternal homolog. (1990) demonstrated somatic mosaicism for this mutation in the father of 2 children with lethal osteogenesis imperfecta (OI2; 166210), each from a different partner. Acad. In a patient with lethal osteogenesis imperfecta type II (OI2; 166210), Forlino et al. [PubMed: 6092353] At the age of 45 years, the patient had significant aortic and mitral valvular disease and had borderline dilatation of the root of the aorta. Arch. Characterization of a type I collagen alpha-2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV: detection of the mutation and prenatal diagnosis by a chemical cleavage method. The rapid detection of the OI mutation by the chemical cleavage method permitted application of the technique to prenatal diagnosis in the next pregnancy by chorion villus sampling. [PubMed: 8104634, related citations] [PubMed: 6267597, related citations] Because of a high level of heterozygosity, the use of this polymorphism in the diagnosis of osteogenesis imperfecta by the linkage principle and in forensic applications was suggested. Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. Ann. At 5 loci, of which the mother and father did not share alleles, the proband had inherited only the maternal allele. [PubMed: 6950413] The mother carried the same inversion. [PubMed: 1385413] Genet. In a patient with osteogenesis imperfecta of Sillence type III (259420), Pihlajaniemi et al. She showed bluish-gray sclerae and mild myopia. Sci. [PubMed: 8786074] Genet. Byers, P. H. 283: 4787-4798, 2008. Mutat. Am. 90: 621-628, 1993. Genet. [PubMed: 8786065, related citations] [PubMed: 3023615, related citations] Hum. Ann. The mother and her 4 children had generalized articular laxity, joint dislocations and subluxations, and wormian bones in the skull. [Full Text], Rose, N. J., Mackay, K., De Paepe, A., Steinmann, B., Punnett, H. H., Dalgleish, R. Ann. Genet. Compared with patients with serine substitutions in alpha-2(I) (n = 40), patients with serine substitutions in alpha-1(I) (n = 42) on average were shorter (median height z-score -6.0 vs -3.4; P = 0.005), indicating that alpha-1(I) mutations cause a more severe phenotype. Expert curators 265: 16007-16011, 1990. [PubMed: 8081394] (1992) stated that despite the high level of mosaicism detected in somatic tissues, the only phenotypic manifestation of OI in the proband (the father) was that he was shorter than his unaffected male relatives and had mild dentinogenesis imperfecta. [PubMed: 20087402] [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=6087329]. N.Y. Acad. [Full Text: https://dx.doi.org/10.1007/BF02185755], Lund, A. M., Skovby, F., Schwartz, M.
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