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Open Access 01-12-2013 | Letter to the Editor

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Authors: Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili, Paul J Coucke

Published in: Orphanet Journal of Rare Diseases | Issue 1/2013

Abstract

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in type I procollagen processing or chaperoning. Hitherto, some OI cases remain molecularly unexplained. We detected a homozygous genomic deletion of CREB3L1 in a family with severe OI. CREB3L1 encodes OASIS, an endoplasmic reticulum-stress transducer that regulates type I procollagen expression during murine bone formation. This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum.

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Title: Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Authors: Sofie Symoens
Fransiska Malfait
Sanne D’hondt
Bert Callewaert
Annelies Dheedene
Wouter Steyaert
Hans Peter Bächinger
Anne De Paepe
Hulya Kayserili
Paul J Coucke
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2013
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-8-154

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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Abstract

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