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dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.contributor.authorPack, M. A.en
dc.contributor.authorYoung, S. B.en
dc.contributor.authorProckop, D. J.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.creatorPack, M. A.en
dc.creatorYoung, S. B.en
dc.creatorProckop, D. J.en
dc.date.accessioned2019-11-04T12:50:27Z
dc.date.available2019-11-04T12:50:27Z
dc.date.issued1990
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53027
dc.description.abstractA 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.sourceAmerican Journal of Human Geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-0025048274&partnerID=40&md5=a4a524ca70e18774a95722637ebb2a2f
dc.subjectarticleen
dc.subjectFemaleen
dc.subjectMaleen
dc.subjecthumanen
dc.subjectpriority journalen
dc.subjectunclassified drugen
dc.subjectcase reporten
dc.subjecthuman cellen
dc.subjectAllelesen
dc.subjectBase Sequenceen
dc.subjectDNAen
dc.subjectMolecular Sequence Dataen
dc.subjectMutationen
dc.subjectheredityen
dc.subjectPolymerase Chain Reactionen
dc.subjectDNA Mutational Analysisen
dc.subjectFibroblastsen
dc.subjectcell cultureen
dc.subjectPedigreeen
dc.subjectamino acid substitutionen
dc.subjectGenes, Lethalen
dc.subjectosteogenesis imperfectaen
dc.subjectBlotting, Southernen
dc.subjectcysteineen
dc.subjectFetal Deathen
dc.subjectglycineen
dc.subjectgenetic engineeringen
dc.subjectLeukocyte Counten
dc.subjectMosaicismen
dc.subjectmutanten
dc.subjectProcollagenen
dc.subjectprocollagen type 1en
dc.subjectProtein Processing, Post-Translationalen
dc.subjectprotein structureen
dc.titlePhenotypic 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.typeinfo:eu-repo/semantics/article
dc.description.volume47
dc.description.startingpage670
dc.description.endingpage679
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :35</p>en
dc.source.abbreviationAm.J.Hum.Genet.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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