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BioMed Central, Orphanet Journal of Rare Diseases, 1(8), 2013

DOI: 10.1186/1750-1172-8-154

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

Journal article published in 2013 by Sofie Symoens, Fransiska Malfait, Sanne D'hondt, Sanne D’hondt, Sanne D. Hondt, Bert Callewaert ORCID, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili, Paul J. Coucke
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.