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- Title
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
- Authors
Symoens, Sofie; Malfait, Fransiska; D'hondt, Sanne; Callewaert, Bert; Dheedene, Annelies; Steyaert, Wouter; Bächinger, Hans Peter; De Paepe, Anne; Kayserili, Hulya; Coucke, Paul J.
- 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.
- Subjects
OSTEOGENESIS imperfecta; COLLAGEN; ENDOPLASMIC reticulum; GENE expression; MEDICAL genetics
- Publication
Orphanet Journal of Rare Diseases, 2013, Vol 8, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/1750-1172-8-154