Hum. Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. 1: 47-54, 1992. J. Med. Chem. Am. Assignment of the genes for mouse type I procollagen to chromosome 16 using mouse fibroblast-Chinese hamster somatic cell hybrids. Genet. [PubMed: 2064612, related citations] Cysteine in the triple helical domain of the pro-alpha-2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta. Am. [PubMed: 2052622] Forlino et al. In a boy with 'atypical' OI and his asymptomatic mother, Kuivaniemi et al. Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical gly502-to-ser substitutions in the alpha-2-chain of type I collagen. Splice site mutations in the COL1A2 gene can give rise to forms of Ehlers-Danlos syndrome because of partial or complete skipping of exon 6, as well as to mild, moderate, or lethal forms of osteogenesis imperfecta as a consequence of skipping of other exons (Schwarze et al., 2004). The splice site mutations led to use of cryptic splice donor sites, creation of a downstream premature termination codon, and highly unstable mRNA. [PubMed: 17078022, images, related citations] J. Med. Sci. Nicholls, A. C., Oliver, J., McCarron, S., Winter, G. B., Pope, F. M. Hum. Derm. Regional assignment of the alpha-2(I) collagen gene to band 7q21 by direct gene dosage determination. (Abstract) 16: 101-116, 1979. The authors noted that the proband was initially thought to have kyphomelic dysplasia (211350). Here we isolate and identify the domain of a human COL1A2-derived protein which promotes fibroblast cell proliferation and collagen type I synthesis. (Letter) [Full Text: https://dx.doi.org/10.1007/s004390051004], Rauch, F., Lalic, L., Roughley, P., Glorieux, F. H. Genetic heterogeneity in osteogenesis imperfecta. 48: 305-317, 1991. Brebner, D. K., Grobler-Rabie, A. F., Bester, A. J., Mathew, C. G., Boyd, C. D. J. Med. Assignment of the human pro-alpha-2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. He developed marked left ventricular enlargement and had his aortic and mitral valves replaced with prosthetic valves, with no surgical complications. (G586V) substitutions in the alpha-1 and alpha-2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? Soc. [Full Text], Spotila, L. D., Sereda, L., Prockop, D. J. 90: 621-628, 1993. doi: 10.1111/j.1524-4725.2005.31736. Dalgleish et al. [Full Text], Knisely, A. S., Richardson, A., Abuelo, D., Casey, S., Singer, D. B. 263: 11407-11413, 1988. [PubMed: 11836364, related citations] Am. Rotary shadowing electron microscopy of secreted fibroblast procollagen from the patient confirmed the presence of a kink in the region of the helix containing the glycine substitution. 37: 502 only, 1984. Nucleic Acids Res. In a patient with EDS VIIB, Weil et al. Chem. [PubMed: 2839839, related citations] Cell Genet. The 8 affected individuals in 6 sibships of 4 generations of a family were all short and showed marked joint laxity, particularly in the hands, moderate hyperextensibility of the skin, blue sclerae, and easy bruising. [PubMed: 1385413, related citations] (A) Diagrams of Human full-length COL1A2 (hCOL1A2) and various deletion mutants. Clin. J. Biochem. 74: 917-930, 2004. Genet. J. Biol. Hum. Genet. (1993) reported this mutation in a single family. 2: 300-305, 1993. A single amino acid deletion in the alpha-2(I) chain of type I collagen produces osteogenesis imperfecta type III. Collagen Rel. 106: 19-28, 2000. [PubMed: 9016532] Am. He had a large secundum-type atrial septal defect, mitral valve prolapse with significant mitral regurgitation, and severe aortic valve regurgitation. Genet. She complained of palpitation and shortness of breath with exertion, and mitral valve regurgitation due to prolapse of the valve was present. All 9 mutations, found by Korkko et al. 33: 968-971, 1996.