dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Pack, M. A. | en |
dc.contributor.author | Young, S. B. | en |
dc.contributor.author | Prockop, D. J. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Pack, M. A. | en |
dc.creator | Young, S. B. | en |
dc.creator | Prockop, D. J. | en |
dc.date.accessioned | 2019-11-04T12:50:27Z | |
dc.date.available | 2019-11-04T12:50:27Z | |
dc.date.issued | 1990 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53027 | |
dc.description.abstract | A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I procollagen (COL1A1), a single base mutation that converted the codon for α1-glycine 904 to a codon for cysteine. The mutation caused the synthesis of type I procollagen that was posttranslationally overmodified, secreted at a decreased rate, and had a decreased thermal stability. The results here demonstrate that the proband's mother had the same single base mutation as the proband. The mother had no fractures and no signs of OI except for short stature, slightly blue sclerae, and mild frontal bossing. As a child, however, she had the triangular facies frequently seen in many patients with OI. On repeated subculturing, the proband's fibroblasts grew more slowly than the mother's but they continued to synthesize large amounts of the mutated procollagen in passages 7-14. In contrast, the mother's fibroblasts synthesized decreasing amounts of the mutated procollaged after passage 11. Also, the relative amount of the mutated allele in the mother's fibroblasts decreased with passage number. In addition, the ratio of the mutated allele to the normal allele in leukocyte DNA from the mother was half the value in fibroblast DNA from the proband. The simplest interpretation of the data is that the mother was mildly affected because she was a mosaic for the mutation that produced a lethal phenotype in one of her three children. | en |
dc.source | American Journal of Human Genetics | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0025048274&partnerID=40&md5=a4a524ca70e18774a95722637ebb2a2f | |
dc.subject | article | en |
dc.subject | Female | en |
dc.subject | Male | en |
dc.subject | human | en |
dc.subject | priority journal | en |
dc.subject | unclassified drug | en |
dc.subject | case report | en |
dc.subject | human cell | en |
dc.subject | Alleles | en |
dc.subject | Base Sequence | en |
dc.subject | DNA | en |
dc.subject | Molecular Sequence Data | en |
dc.subject | Mutation | en |
dc.subject | heredity | en |
dc.subject | Polymerase Chain Reaction | en |
dc.subject | DNA Mutational Analysis | en |
dc.subject | Fibroblasts | en |
dc.subject | cell culture | en |
dc.subject | Pedigree | en |
dc.subject | amino acid substitution | en |
dc.subject | Genes, Lethal | en |
dc.subject | osteogenesis imperfecta | en |
dc.subject | Blotting, Southern | en |
dc.subject | cysteine | en |
dc.subject | Fetal Death | en |
dc.subject | glycine | en |
dc.subject | genetic engineering | en |
dc.subject | Leukocyte Count | en |
dc.subject | Mosaicism | en |
dc.subject | mutant | en |
dc.subject | Procollagen | en |
dc.subject | procollagen type 1 | en |
dc.subject | Protein Processing, Post-Translational | en |
dc.subject | protein structure | en |
dc.title | Phenotypic heterogeneity in osteogenesis imperfecta: The mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for α1-glycine 904 in a type I procollagen gene (COL1A1) | en |
dc.type | info:eu-repo/semantics/article | |
dc.description.volume | 47 | |
dc.description.startingpage | 670 | |
dc.description.endingpage | 679 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :35</p> | en |
dc.source.abbreviation | Am.J.Hum.Genet. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |