Title |
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, September 2013
|
DOI | 10.1186/1750-1172-8-154 |
Pubmed ID | |
Authors |
Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili, Paul J Coucke |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 83 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 15 | 18% |
Student > Ph. D. Student | 11 | 13% |
Student > Bachelor | 9 | 11% |
Professor > Associate Professor | 9 | 11% |
Other | 8 | 10% |
Other | 17 | 20% |
Unknown | 14 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 26 | 31% |
Medicine and Dentistry | 18 | 22% |
Agricultural and Biological Sciences | 13 | 16% |
Nursing and Health Professions | 1 | 1% |
Chemical Engineering | 1 | 1% |
Other | 5 | 6% |
Unknown | 19 | 23% |