Osteogenesis imperfecta

@article{Marini2017OsteogenesisI,
  title={Osteogenesis imperfecta},
  author={Joan C. Marini and Antonella Forlino and Hans Peter Bächinger and Nicholas Bishop and Peter H Byers and Anne De Paepe and François Fassier and Nadja Fratzl‐Zelman and Kenneth M. Kozloff and Deborah Krakow and Kathleen Montpetit and Oliver Semler},
  journal={Nature Reviews Disease Primers},
  year={2017},
  volume={3}
}
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of… Expand
Current approach to diagnosis and treatment of children with osteogenesis imperfecta
TLDR
Surgical treatment of the fractures and deformities of the extremities showed a positive effect on the patients’ quality of life, despite existing complications, and pharmacological treatment is based on bisphosphonate treatment, which increases the bone mineral density. Expand
Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.
  • Xiao-jie Xu, F. Lv, +9 authors Mei Li
  • Medicine
  • Clinica chimica acta; international journal of clinical chemistry
  • 2019
TLDR
It is reported for the first time that the novel pathogenic mutations in BMP1 can lead to the extremely rare OI type XIII, which exhibit unique characters of high bone mass, but with impaired bone microstructure and comprised bone strength. Expand
Osteogenesis imperfecta—pathophysiology and therapeutic options
TLDR
An overview of the genetic heterogeneity and pathophysiological background of OI as well as OI-related bone fragility disorders and current therapeutic options is presented. Expand
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta
TLDR
The mutations in the main pathogenic genes, COL1A1 andCOL1A2, and the clinical characteristics of osteogenesis imperfecta in China are described and these findings help reveal the genetic basis of Asian OI patients and contribute to genetic counselling. Expand
Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype
TLDR
This is the first publication that confirms the pathogenic effect of this mutation and describes the phenotype of single nucleotide polymorphism in the gene encoding the collagen type I alpha 1. Expand
Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease
TLDR
This study conducted association analysis between genotypes and phenotypes of OI diseases and found that mutations in COL1A1 andCOL1A2 contributed to a large proportion of the disease phenotypes, and identified several new potential pathogenic genes based on the integration of protein–protein interaction and pathway enrichment analysis. Expand
Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research
TLDR
Preclinical studies in OI mouse models have shown encouraging effects when the antiresorptive effect of a bisphosphonate was combined with bone anabolic therapy using a sclerostin antibody. Expand
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes
TLDR
The most recent advances in the understanding of processes involved in abnormal bone mineralization, collagen processing and osteoblast function are described, as illustrated by the characterization of new causative genes for OI and OI‐related fragility syndromes. Expand
Osteogenesis imperfecta in children.
TLDR
The genetics of OI continues to provide insights into the molecular pathogenesis of the disease, although the pathophysiology is less clear and preclinical assessment is not supportive of targeting inflammatory pathways, although understanding why TGFb signalling is increased, and whether that presents a treatment target in OI, remains to be established. Expand
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
TLDR
An analysis of the clinical manifestations and mutational spectrum of 94 Ukrainian OI families with 27 novel COL1A1/2 pathogenic variants is presented to contribute toward the increased understanding of the phenotype development and genetics of the disorder. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 257 REFERENCES
New genes in bone development: what's new in osteogenesis imperfecta.
TLDR
Three recessive OI types arise from defects in any of the components of the collagen prolyl 3-hydroxylation complex (CRTAP, P3H1, CyPB), which modifies the collagen α1(I)Pro986 residue. Expand
Osteogenesis imperfecta: Epidemiology and pathophysiology
TLDR
Questions exist regarding the difference in treatment response between children and adults with OI, and other treatment options, such as recombinant human parathyroid hormone, Rank ligand inhibitors, and stem cell technology, are being evaluated or are of future investigative interest. Expand
Osteogenesis imperfecta: diagnosis and treatment
TLDR
Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed and new antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs need to be better established before they can be used in clinical practice. Expand
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta.
TLDR
Evidence of defects in all three mechanisms, which normally lead to an increase in bone mass during childhood, are regarded as a disease in which a single genetic defect in the osteoblast interferes with multiple mechanisms that normally ensure adaptation of the skeleton to the increasing mechanical needs during growth. Expand
Treatment options for osteogenesis imperfecta
TLDR
A critical view on current and novel therapies for OI is given, with particular emphasis on those that target bone cell activity and differentiation, genetic correction of mutant alleles and cellular therapy. Expand
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.
TLDR
Histomorphometric analyses of iliac crest bone samples revealed findings similar to OI type I, with decreased cortical width and trabecular number, increased bone turnover, and preservation of the birefringent pattern of lamellar bone. Expand
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
TLDR
A homozygous single base pair deletion in SP7/Osterix (OSX) in an Egyptian child with recessive osteogenesis imperfecta is identified, adding another locus to the spectrum of genes associated with osteogenesisperfecta and reveals that SP 7/OSX also plays a key role in human bone development. Expand
Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations
TLDR
The tissue- and material-level abnormalities found in OI-I (low bone mass and increased mineral content of the matrix) seem to be independent of the collagen mutations. Expand
New frontiers for dominant osteogenesis imperfecta treatment: gene/cellular therapy approaches
TLDR
This review briefly summarized what has been done so far for classical OI in terms of novel regenerative approaches and discussed the critical issues that still need to be addressed to make these approaches real treatment options. Expand
New perspectives on osteogenesis imperfecta
TLDR
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. Expand
...
1
2
3
4
5
...