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  A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

Rolvien, T., Kornak, U., Stürznickel, J., Schinke, T., Amling, M., Mundlos, S., et al. (2018). A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International, 29(1), 243-246. doi:10.1007/s00198-017-4224-8.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-59DA-4 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-59DB-3
Genre: Journal Article

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© International Osteoporosis Foundation and National Osteoporosis Foundation 2017
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 Creators:
Rolvien, T., Author
Kornak, U.1, 2, 3, Author              
Stürznickel, J., Author
Schinke, T., Author
Amling, M., Author
Mundlos, S.1, 2, 3, Author              
Oheim, R., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353, Berlin, Germany, ou_persistent22              
3Berlin-Brandenburg School for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              

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 Abstract: Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2). We report two cases of a 56-year-old woman and her 80-year-old mother who suffered from multiple vertebral and non-vertebral fractures with onset in early childhood. A full osteologic assessment including dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses pointed to a high bone mineral density (BMD) in the hip (DXA Z-score + 3.7 and + 3.9) but low to normal bone mass in the spine and preserved bone microstructure in the distal tibia. Serum markers of bone formation and bone resorption were elevated. Using whole exome sequencing, we identified a novel mutation in the COL1A2 gene causing a p. (Asp1120Gly) substitution at the protein level and affecting the type I procollagen C-propeptide cleavage site. In line with previously reported cases, our data independently prove the existence of an unusual phenotype of high bone mass OI caused by a mutation in the procollagen C-propeptide cleavage with a clinically persistent phenotype through adulthood.

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Language(s): eng - English
 Dates: 2017-09-072017-09-152018-01
 Publication Status: Published in print
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 Identifiers: DOI: 10.1007/s00198-017-4224-8
ISSN: 1433-2965 (Electronic) 0937-941X (Print)
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Title: Osteoporosis International
Source Genre: Journal
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Pages: - Volume / Issue: 29 (1) Sequence Number: - Start / End Page: 243 - 246 Identifier: -