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  • Title: Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
    Author: Symoens S, Malfait F, D'hondt S, Callewaert B, Dheedene A, Steyaert W, Bächinger HP, De Paepe A, Kayserili H, Coucke PJ.
    Journal: Orphanet J Rare Dis; 2013 Sep 30; 8():154. PubMed ID: 24079343.
    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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