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


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.

SUBMITTER: Symoens S 

PROVIDER: S-EPMC3850743 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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

Symoens Sofie S   Malfait Fransiska F   D'hondt Sanne S   Callewaert Bert B   Dheedene Annelies A   Steyaert Wouter W   Bächinger Hans Peter HP   De Paepe Anne A   Kayserili Hulya H   Coucke Paul J PJ  

Orphanet journal of rare diseases 20130930


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 O  ...[more]

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