Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Sofie Symoens,Fransiska Malfait,Sanne D'hondt,Bert Callewaert,Annelies Dheedene,Wouter Steyaert,Hans Peter Bächinger,Hans Peter Bächinger,Anne De Paepe,Hülya Kayserili,Paul Coucke +10 more
TLDR
This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum and detecting a homozygous genomic deletion of CREB 3L1 in a family with severe OI.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.read more
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Journal ArticleDOI
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
F.S. Van Dijk,David Sillence +1 more
TL;DR: The new OI nomenclature and the pre‐and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI.
Journal ArticleDOI
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
Katarina Lindahl,Eva Åström,Carl-Johan Rubin,Giedre Grigelioniene,B. Malmgren,Östen Ljunggren,Andreas Kindmark +6 more
TL;DR: The data reported here may be helpful to predict phenotype, and describes for the first time the genetic epidemiology in >95% of an entire OI population.
Journal ArticleDOI
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
TL;DR: Identification of these multiple causative defects has provided crucial information for accurate genetic counseling, inspired a recently proposed functional grouping of osteogenesis imperfecta types by shared mechanism to simplify current nosology, and has prodded investigations into common pathways in osteogenesis perfecta.
Journal ArticleDOI
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert,Wayne A. Cabral,Surasawadee Ausavarat,Surasawadee Ausavarat,Surasawadee Ausavarat,Siraprapa Tongkobpetch,Siraprapa Tongkobpetch,Katja Ludin,Aileen M. Barnes,Patra Yeetong,Patra Yeetong,MaryAnn Weis,Birgit Krabichler,Chalurmpon Srichomthong,Chalurmpon Srichomthong,Elena Makareeva,Andreas R. Janecke,Sergey Leikin,Benno Röthlisberger,Marianne Rohrbach,Ingo Kennerknecht,David R. Eyre,Kanya Suphapeetiporn,Kanya Suphapeetiporn,Cecilia Giunta,Joan C. Marini,Vorasuk Shotelersuk,Vorasuk Shotelersuk +27 more
TL;DR: An X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P) is identified, providing evidence that RIP plays a fundamental role in normal bone development.
Journal ArticleDOI
Osteogenesis imperfecta – A clinical update
Symeon Tournis,Anastasia D Dede +1 more
TL;DR: Intravenous bisphosphonates are the most widely used intervention, having significant favorable effects regarding areal bone mineral density and vertebral reshaping following fractures in growing children, but more research is needed to delineate the best therapeutic approach in this heterogeneous disease.
References
More filters
Journal ArticleDOI
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
TL;DR: Advanced and universally applicable models for relative quantification and inter-run calibration with proper error propagation along the entire calculation track are outlined in qBase, a free program for the management and automated analysis of qPCR data.
Journal ArticleDOI
Detection of large-scale variation in the human genome.
A. John Iafrate,Lars Feuk,Miguel Rivera,Miguel Rivera,Marc L. Listewnik,Patricia K. Donahoe,Ying Qi,Stephen W. Scherer,Charles Lee,Charles Lee +9 more
TL;DR: This article identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals, and revealed that half of these regions overlap with genes, and many coincide with segmental duplications or gaps in human genome assembly.
Journal ArticleDOI
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth,Shola M. Richards,A. Paul Bevan,Stephen Clayton,Manuel Corpas,Diana Rajan,Steven Van Vooren,Yves Moreau,Roger Pettett,Nigel P. Carter +9 more
TL;DR: An interactive web-based database called DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) which incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations.
Journal ArticleDOI
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini,Antonella Forlino,Antonella Forlino,Wayne A. Cabral,Aileen M. Barnes,James D. San Antonio,Sarah A. Milgrom,James C. Hyland,Jarmo Körkkö,Darwin J. Prockop,Anne De Paepe,Paul Coucke,Sofie Symoens,Francis H. Glorieux,Peter J. Roughley,Alan M. Lund,Kaija Kuurila-Svahn,Heini Hartikka,Daniel H. Cohn,Deborah Krakow,Monica Mottes,Ulrike Schwarze,Diana Chen,Kathleen Yang,Christine D Kuslich,James Troendle,Raymond Dalgleish,Peter H. Byers +27 more
TL;DR: The data on genotype–phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events.
Journal ArticleDOI
New perspectives on osteogenesis imperfecta.
TL;DR: Clinical management of osteogenesis imperfecta is multidisciplinary, encompassing substantial progress in physical rehabilitation and surgical procedures, management of hearing, dental and pulmonary abnormalities, as well as drugs, such as bisphosphonates and recombinant human growth hormone.
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