Redman, M.G., Wagner, B.E. and Balasubramanian, M. (2020) Osteogenesis Imperfecta type I : the role of deep phenotyping in a patient with a ruptured uterus. European Journal of Medical Genetics, 63 (12). 104095. ISSN 1769-7212
Abstract
As molecular diagnosis of Osteogenesis Imperfecta has become more accessible, there is an increasing ability to consider additional techniques to undertake deep phenotyping of the patient.
In this report, we present the details of a female patient with type I Osteogenesis Imperfecta caused due to a pathogenic COL1A1 variant, who suffered from uterine rupture during labour in her second pregnancy, at age 33. Her presentation, patient journey, and histological results are described. Collagen flowers were identified with electron microscopy of a skin biopsy, and the significance of these are explored. Two other recorded cases of women with Osteogenesis Imperfecta who developed uterine rupture are discussed.
This report demonstrates the potential role for ultrastructural tissue examination and deep phenotyping, to allow further insights into the relationship between genotype and phenotype.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2020 Elsevier Masson SAS. This is an author produced version of a paper subsequently published in European Journal of Medical Genetics. Uploaded in accordance with the publisher's self-archiving policy. Article available under the terms of the CC-BY-NC-ND licence (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
Keywords: | osteogenesis imperfecta; COL1A1/COL1A2 collagen flowers; type 1 collagen; phenotype; uterine rupture |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 12 Nov 2020 11:44 |
Last Modified: | 02 Feb 2022 14:22 |
Status: | Published |
Publisher: | Elsevier |
Refereed: | Yes |
Identification Number: | 10.1016/j.ejmg.2020.104095 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:167920 |
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