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
| العنوان: | 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 |
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| المؤلفون: | Spotila, L. D., Constantinou-Deltas, Constantinos D., Sereda, L., Ganguly, A., Riggs, B. L., Prockop, D. J. |
| المساهمون: | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| المصدر: | Proceedings of the National Academy of Sciences of the United States of America Proc.Natl.Acad.Sci.U.S.A. |
| بيانات النشر: | Proceedings of the National Academy of Sciences, 1991. |
| سنة النشر: | 1991 |
| مصطلحات موضوعية: | Collagen helix, Osteoporosis, Case Report, osteogenesis imperfecta, Gene mutation, Support, U.S. Gov't, P.H.S, Polymerase Chain Reaction, Middle Age, Osteoporosis, Postmenopausal, Multidisciplinary, article, Middle Aged, Osteogenesis Imperfecta, postmenopause, female, Phenotype, priority journal, Osteogenesis imperfecta, Electrophoresis, Polyacrylamide Gel, Female, Collagen, Procollagen, Type I collagen, Research Article, Adult, medicine.medical_specialty, Genotype, Molecular Sequence Data, procollagen, Biology, glycine substitutions, posttranslational overmodifications, Internal medicine, direct DNA sequencing, medicine, Humans, human, Support, Non-U.S. Gov't, Gene, collagen type 1, Base Sequence, Point mutation, detection of mutations, medicine.disease, osteoporosis, human tissue, Radiography, Procollagen peptidase, Endocrinology, Mutation, mutation, dna sequence |
| الوصف: | Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life. Here we show that a 52-year-old postmenopausal woman with severe osteopenia and a compression fracture of a thoracic vertebra had a mutation in the gene for the α2(I) chain of type I collagen (COL1A2) similar to mutations that cause OI. cDNA was prepared from the woman's skin fibroblast RNA and assayed for the presence of a mutation by treating DNA heteroduplexes with carbodiimide. The results indicated a sequence variation in the region encoding amino acid residues 660-667 of the α2(I) chain. Further analysis demonstrated a single-base mutation that caused a serine-for-glycine substitution at position 661 of the α2(I) triple-helical domain. The substitution produced posttranslational overmodification of the collagen triple helix, as is seen with most glycine substitutions that cause OI. The patient had a history of five previous fractures, slightly blue sclerae, and slight hearing loss. Therefore, the results suggest that there may be phenotypic and genotypic overlap between mild osteogenesis imperfecta and postmenopausal osteoporosis, and that a subset of women with postmenopausal osteoporosis may have mutations in the genes for type I procollagen. 88 5423 5427 Cited By :103 |
| تدمد: | 1091-6490 0027-8424 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaf14342538bb564f38e13dfe475a43dTest https://doi.org/10.1073/pnas.88.12.5423Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....eaf14342538bb564f38e13dfe475a43d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10916490 00278424 |
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