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Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Endocrine Tumor Biology.ORCID iD: 0000-0003-3121-5832
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Orthopaedics.ORCID iD: 0000-0002-3233-2638
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Orthopaedics.ORCID iD: 0000-0002-0959-3485
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.ORCID iD: 0000-0003-4185-7409
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2019 (English)In: Molecular Genetics & Genomic Medicine, ISSN 2324-9269, Vol. 7, no 7, article id e00723Article in journal (Refereed) Published
Abstract [en]

Background

Osteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture.

Methods

In this report we describe the clinical phenotype of two patients, a 28‐year‐old woman and her mother (54 years old), both with a history of short stature and multiple fractures.

Results

Exome sequencing revealed the recurring IFITM5:c.‐14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT‐scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation.

Conclusion

Ossification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.

Place, publisher, year, edition, pages
2019. Vol. 7, no 7, article id e00723
Keywords [en]
BRIL, heterotopic ossification, IFITM5, Osteogenesis imperfecta type V
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-387239DOI: 10.1002/mgg3.723ISI: 000475675000062PubMedID: 31099171OAI: oai:DiVA.org:uu-387239DiVA, id: diva2:1328209
Available from: 2019-06-20 Created: 2019-06-20 Last updated: 2019-08-15Bibliographically approved

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Clewemar, PantelisHailer, Nils P.Hailer, YasminKlar, JoakimKindmark, AndreasLjunggren, ÖstenStattin, Eva-Lena
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