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

Orphanet Journal of Rare Diseases

Paul J Coucke¹  Hulya Kayserili³  Anne De Paepe¹  Hans Peter Bächinger²  Wouter Steyaert¹  Annelies Dheedene¹  Bert Callewaert¹  Sanne D’hondt¹  Fransiska Malfait¹  Sofie Symoens¹ 

[1] Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium;Department of Biochemistry and Molecular Biology, Oregon Health & Science University, 97239 Portland, OR, USA;Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey

关键词: Endoplasmic reticulum stress;    CREB3L1;    OASIS;    Type I collagen;    Osteogenesis imperfecta;   

Others  :  863502
DOI  :  10.1186/1750-1172-8-154

 received in 2013-05-27, accepted in 2013-09-15,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Symoens et al.; licensee BioMed Central Ltd.

【 图 表 】

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