Deficiency for the ER-stress Transducer OASIS Causes Severe Recessive Osteogenesis Imperfecta in Humans

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2013 Oct 2

PMID 24079343

Citations 60

Authors

Sofie Symoens

Fransiska Malfait

Sanne Dhondt

Bert Callewaert

Annelies Dheedene

Wouter Steyaert

Hans Peter Bachinger

Anne De Paepe

Hulya Kayserili

Paul J Coucke

Affiliations

Soon will be listed here.

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.

Citing Articles

Pleiotropic effects of a recessive Col1a2 mutation occurring in a mouse model of severe osteogenesis imperfecta.

Corcelli M, Sagar R, Petzendorfer E, Hasan M, van Dijk F, David A PLoS One. 2025; 20(2):e0309801.

PMID: 39908220 PMC: 11798436. DOI: 10.1371/journal.pone.0309801.

Homeostasis control in health and disease by the unfolded protein response.

Acosta-Alvear D, Harnoss J, Walter P, Ashkenazi A Nat Rev Mol Cell Biol. 2024; 26(3):193-212.

PMID: 39501044 DOI: 10.1038/s41580-024-00794-0.

CREB3L1 deficiency impairs odontoblastic differentiation and molar dentin deposition partially through the TMEM30B.

Li Y, Lin Y, Guo J, Huang D, Zuo H, Zhang H Int J Oral Sci. 2024; 16(1):59.

PMID: 39384739 PMC: 11464721. DOI: 10.1038/s41368-024-00322-y.

Update on the Genetics of Osteogenesis Imperfecta.

Jovanovic M, Marini J Calcif Tissue Int. 2024; 115(6):891-914.

PMID: 39127989 PMC: 11607015. DOI: 10.1007/s00223-024-01266-5.

Disruption of the creb3l1 gene causes defects in caudal fin regeneration and patterning in zebrafish Danio rerio.

VanWinkle P, Lee E, Wynn B, Nawara T, Thomas H, Parant J Dev Dyn. 2024; 253(12):1106-1129.

PMID: 39003620 PMC: 11609917. DOI: 10.1002/dvdy.726.

References

Firth H, Richards S, Bevan A, Clayton S, Corpas M, Rajan D . DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet. 2009; 84(4):524-33. PMC: 2667985. DOI: 10.1016/j.ajhg.2009.03.010. View

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D . A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat. 2013; 34(4):582-6. DOI: 10.1002/humu.22274. View

van Dijk F, Nesbitt I, Zwikstra E, Nikkels P, Piersma S, Fratantoni S . PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 2009; 85(4):521-7. PMC: 2756556. DOI: 10.1016/j.ajhg.2009.09.001. View

Keupp K, Beleggia F, Kayserili H, Barnes A, Steiner M, Semler O . Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013; 92(4):565-74. PMC: 3617378. DOI: 10.1016/j.ajhg.2013.02.010. View

Barnes A, Carter E, Cabral W, Weis M, Chang W, Makareeva E . Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med. 2010; 362(6):521-8. PMC: 3156560. DOI: 10.1056/NEJMoa0907705. View

Hellemans J, Mortier G, De Paepe A, Speleman F, Vandesompele J . qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol. 2007; 8(2):R19. PMC: 1852402. DOI: 10.1186/gb-2007-8-2-r19. View

Pyott S, Tran T, Leistritz D, Pepin M, Mendelsohn N, Temme R . WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet. 2013; 92(4):590-7. PMC: 3617391. DOI: 10.1016/j.ajhg.2013.02.009. View

Alanay Y, Avaygan H, Camacho N, Utine G, Boduroglu K, Aktas D . Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010; 86(4):551-9. PMC: 2850430. DOI: 10.1016/j.ajhg.2010.02.022. View

Shaheen R, AlAzami A, Alshammari M, Faqeih E, Alhashmi N, Mousa N . Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet. 2012; 49(10):630-5. DOI: 10.1136/jmedgenet-2012-101142. View

10.

Cho T, Lee K, Lee S, Song S, Kim K, Jeon D . A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012; 91(2):343-8. PMC: 3415533. DOI: 10.1016/j.ajhg.2012.06.005. View

11.

Kelley B, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S . Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2010; 26(3):666-72. PMC: 3179293. DOI: 10.1002/jbmr.250. View

12.

Buysse K, Delle Chiaie B, Van Coster R, Loeys B, De Paepe A, Mortier G . Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet. 2009; 52(6):398-403. DOI: 10.1016/j.ejmg.2009.09.002. View

13.

Martinez-Glez V, Valencia M, Caparros-Martin J, Aglan M, Temtamy S, Tenorio J . Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat. 2011; 33(2):343-50. PMC: 3725821. DOI: 10.1002/humu.21647. View

14.

Forlino A, Cabral W, Barnes A, Marini J . New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011; 7(9):540-57. PMC: 3443407. DOI: 10.1038/nrendo.2011.81. View

15.

van Dijk F, Nikkels P, den Hollander N, Nesbitt I, van Rijn R, Cobben J . Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings. Pediatr Dev Pathol. 2010; 14(3):228-34. DOI: 10.2350/10-03-0806-CR.1. View

16.

Menten B, Pattyn F, De Preter K, Robbrecht P, Michels E, Buysse K . arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays. BMC Bioinformatics. 2005; 6:124. PMC: 1173083. DOI: 10.1186/1471-2105-6-124. View

17.

Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J . A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012; 91(2):349-57. PMC: 3415541. DOI: 10.1016/j.ajhg.2012.06.011. View

18.

Murakami T, Saito A, Hino S, Kondo S, Kanemoto S, Chihara K . Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation. Nat Cell Biol. 2009; 11(10):1205-11. DOI: 10.1038/ncb1963. View

19.

Ding L, Bunting M, Topham M, McIntyre T, Zimmerman G, Prescott S . Alternative splicing of the human diacylglycerol kinase zeta gene in muscle. Proc Natl Acad Sci U S A. 1997; 94(11):5519-24. PMC: 20810. DOI: 10.1073/pnas.94.11.5519. View

20.

Kanoh H, Yamada K, Sakane F . Diacylglycerol kinase: a key modulator of signal transduction?. Trends Biochem Sci. 1990; 15(2):47-50. DOI: 10.1016/0968-0004(90)90172-8. View