6,254 results match your criteria Osteogenesis Imperfecta

The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.

Mol Genet Genomic Med 2022 Jun 24:e1996. Epub 2022 Jun 24.

Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

Background: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype appears to be influenced by the properties of amino acid side chain and the degree of structural aberration of collagen molecules. Read More

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Point of Care Ultrasound Identification of Multiple Rib Fractures in a Pediatric Patient with Osteogenesis Imperfecta Type 3.

Children (Basel) 2022 Jun 10;9(6). Epub 2022 Jun 10.

Department of Emergency Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore.

Patients with osteogenesis imperfecta (OI) are at an increased risk of pathological rib fractures even if there is no history of trauma. Early and accurate identification of such fractures are crucial for appropriate management. We present a case of a child with OI type 3 with multiple rib fractures who presented with transient cyanosis and increased work of breathing without a history of significant trauma. Read More

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KDEL Receptors: Pathophysiological Functions, Therapeutic Options, and Biotechnological Opportunities.

Biomedicines 2022 May 25;10(6). Epub 2022 May 25.

Department of Innovative Technologies in Medicine and Dentistry, "G. D'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.

KDEL receptors (KDELRs) are ubiquitous seven-transmembrane domain proteins encoded by three mammalian genes. They bind to and retro-transport endoplasmic reticulum (ER)-resident proteins with a C-terminal Lys-Asp-Glu-Leu (KDEL) sequence or variants thereof. In doing this, KDELR participates in the ER quality control of newly synthesized proteins and the unfolded protein response. Read More

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Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases.

Front Pharmacol 2022 6;13:785705. Epub 2022 Jun 6.

Università Cattolica del Sacro Cuore, Graduate School of Health Economics and Management, Rome, Italy.

Next-generation sequencing (NGS) technology, changing the diagnostic approach, has become essential in clinical settings, and its adoption by public health laboratories is now the practice. Despite this, as technological innovations, its intake requires an evaluation of both the clinical utility and the economic investment, especially considering the rare disease scenario. This study evaluated the analytical validity and the budget impact of an NGS-Ion Torrent™ approach for the molecular germline diagnosis of two musculoskeletal rare diseases. Read More

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Relationship of pathogenic mutations and responses to zoledronic acid in a cohort of osteogenesis imperfecta children.

J Clin Endocrinol Metab 2022 Jun 21. Epub 2022 Jun 21.

Department of Endocrinology, Key Laboratory of Endocrinology of National Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China.

Context: Osteogenesis imperfecta (OI) is a rare, heterogeneous genetic disorder characterized by bone fragility and recurrent fractures. Bisphosphonates (BPs) are the most commonly used medications for OI, but their efficacy has great variability.

Objective: We investigate the relationship of pathogenic gene mutations and responses to zoledronic acid (ZOL) in a large cohort of OI children. Read More

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Skeletal muscle mitochondrial function and whole-body metabolic energetics in the +/G610C mouse model of osteogenesis imperfecta.

Mol Genet Metab 2022 Jun 13. Epub 2022 Jun 13.

Department of Biochemistry, University of Missouri, Columbia, MO 65211, United States of America; Department of Child Health, University of Missouri, Columbia, MO 65212, United States of America. Electronic address:

Osteogenesis imperfecta (OI) is rare heritable connective tissue disorder that most often arises from mutations in the type I collagen genes, COL1A1 and COL1A2, displaying a range of symptoms including skeletal fragility, short stature, blue-gray sclera, and muscle weakness. Recent investigations into the intrinsic muscle weakness have demonstrated reduced contractile generating force in some murine models consistent with patient population studies, as well as alterations in whole body bioenergetics. Muscle weakness is found in approximately 80% of patients and has been equivocal in OI mouse models. Read More

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An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life.

Case Rep Pediatr 2022 6;2022:3251980. Epub 2022 Jun 6.

Paanchkhal Primary Health Center, Kavre, Nepal.

Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal dominant pattern, but it can sometimes occur sporadically. Among the four main types, type III is the most severe type which presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities. Read More

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Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.

Clin Genet 2022 Jun 15. Epub 2022 Jun 15.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 ) mice.

J Cell Mol Med 2022 Jun 14. Epub 2022 Jun 14.

Musculoskeletal Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

The inherited brittle bone disease osteogenesis imperfecta (OI) is commonly caused by COL1A1 and COL1A2 mutations that disrupt the collagen I triple helix. This causes intracellular endoplasmic reticulum (ER) retention of the misfolded collagen and can result in a pathological ER stress response. A therapeutic approach to reduce this toxic mutant load could be to stimulate mutant collagen degradation by manipulating autophagy and/or ER-associated degradation. Read More

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Aster saponin A₂ inhibits osteoclastogenesis through mitogen-activated protein kinase-c-Fos-NFATc1 signaling pathway.

J Vet Sci 2022 Apr 11. Epub 2022 Apr 11.

Department of Dental Pharmacology, School of Dentistry, Jeonbuk National University, Jeonju 54896, Korea.

Background: In lipopolysaccharide-induced RAW264.7 cells, (AT) inhibits the nuclear factor kappa-light-chain-enhancer of activated B cells and MAPKs pathways and critical pathways of osteoclast development and bone resorption.

Objectives: This study examined how aster saponin A2 (AS-A2) isolated from AT affects the processes and function of osteoclastogenesis induced by receptor activator of nuclear factor kappa-B ligand (RANKL) in RAW264. Read More

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Spontaneous reshaping of vertebral fractures in an adolescent with osteogenesis imperfecta.

Bone Rep 2022 Jun 3;16:101595. Epub 2022 Jun 3.

Department of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.

Background: Vertebral compression fractures (VFs) are a common and severe finding in patients with osteoporosis. In children, VFs have the unique potential to reshape and regain their original configuration. Spontaneous vertebral body reshaping (, medication-unassisted) has been reported in secondary osteoporosis. Read More

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How Children's participation ought to be practiced: A preliminary ethical framework to optimise the participation of children with osteogenesis imperfecta in health care.

J Clin Nurs 2022 Jun 8. Epub 2022 Jun 8.

McGill University, Montreal, QC, Canada.

Background: A three-phase ethnography was conducted at a paediatric orthopaedic hospital exploring the actual and desired participation of children with Osteogenesis Imperfecta in discussions, decisions and actions in the hospital and community. Phase I and Phase II revealed how childhood ethics are understood and practiced in the hospital using artmaking to engage children in discussions about their health-related experiences. Children expressed frustration, anger and disappointment when their desired level of participation in care was not actualized due to forgone opportunities for engagement by clinicians or lack of child-oriented health resources. Read More

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Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient.

Stem Cell Res 2022 Jul 31;62:102827. Epub 2022 May 31.

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China. Electronic address:

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized mainly by fractures and bone deformities. It has been established that gene mutations, particularly those in COL1A1 and COL1A2, account for most phenotypes. Here, we generated an induced pluripotent stem cells (iPSCs) line named SMBCi014-A using urine cells (UCs) derived from a 15-year-old female OI type I patient who carried the frame-shift mutation of the COL1A1 gene (exon35:c. Read More

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Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2.

Genet Med 2022 Jun 3. Epub 2022 Jun 3.

Shriners Hospital for Children - Canada, McGill University, Montreal, QC, Canada.

Purpose: Short stature is common in osteogenesis imperfecta (OI) and is usually severe in OI types III and IV. The characteristics of pubertal growth in OI have not been studied in detail.

Methods: We assessed 82 individuals with OI caused by pathogenic variants in COL1A1 or COL1A2 who had annual height data between 6 and 16 years of age at a minimum. Read More

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Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta.

Bone 2022 May 30;162:116451. Epub 2022 May 30.

Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, USA. Electronic address:

Introduction: Osteogenesis imperfecta (OI) is a heterogenous group of heritable connective tissue disorders characterized by high bone fragility due to low bone mass and impaired bone material properties. Atypical type VI OI is an extremely rare and severe form of bone dysplasia resulting from a loss-of-function mutation (p.S40L) in IFITM5/BRIL,the causative gene of OI type V and decreased osteoblast secretion of pigment epithelium-derived factor (PEDF), as in OI type VI. Read More

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Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

J Immunol Res 2022 19;2022:5068523. Epub 2022 May 19.

Department of Joint Surgery, Center for Orthopedic Surgery, The Third Affiliated Hospital of Southern Medical University, Guangzhou 510515, China.

Background: As a heterogeneous hereditary connective tissue disorder, osteogenesis imperfecta (OI) is clinically characterized by increased fracture susceptibility. Analysis of genetic pathogenic variants in patients with OI provides a basis for genetic counseling and prenatal diagnosis.

Methods: In this study, 14 diagnosed OI patients from sporadic Chinese families were enrolled to be screened for potential mutations from these patients by next-generation sequencing technology. Read More

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The Modified Shields Classification and 12 Families with Defined Mutations.

Genes (Basel) 2022 May 12;13(5). Epub 2022 May 12.

Department of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109, USA.

Mutations in Dentin Sialophosphoprotein () are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), dentinogenesis imperfecta type-II (DGI-II), and dentinogenesis imperfecta type-III (DGI-III). mutations fall into two groups: a 5'-group that affects protein targeting and a 3'-group that shifts translation into the -1 reading frame. Using whole-exome sequence (WES) analyses and Single Molecule Real-Time (SMRT) sequencing, we identified disease-causing mutations in 12 families. Read More

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Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review.

J Int Med Res 2022 May;50(5):3000605221097369

Department of Orthopaedic Surgery, University Hospital in Hradec Kralove, Charles University, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic.

The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients. Although total knee arthroplasty has become a highly efficient surgical technique for osteoarthritis, this procedure remains uncommon in patients with osteogenesis imperfecta. Read More

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[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1].

D V I V A Aysina

Zh Nevrol Psikhiatr Im S S Korsakova 2022 ;122(5):128-131

National Medical Research Center of Children's Health, Moscow, Russia.

A clinical case of a patient with neonatal epilepsy at the age of 5 months, with impaired bone formation, early osteoporosis and frequent limb fractures is described. Panel sequencing confirmed by Sanger sequencing revealed two independent hereditary diseases - osteogenesis imperfect type 1, associated with a mutation in the gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the gene (c. Read More

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Anesthetic and Surgical Considerations in Osteogenesis Imperfecta: A Case Report of Mandible Fracture Management.

Eplasty 2022 5;22:e12. Epub 2022 May 5.

Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL.

Background: Osteogenesis imperfecta (OI) is a rare metabolic bone disorder in which collagen production is impaired. Patients have brittle bones that are prone to fracture with minor trauma. Whereas most of the fractures occur in the spine and extremities, fractures of the craniofacial bones are less common. Read More

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Prevalence of scoliosis and impaired pulmonary function in patients with type III osteogenesis imperfecta.

Eur Spine J 2022 May 23. Epub 2022 May 23.

Department of Orthopaedic Surgery, Isala, Zwolle, The Netherlands.

Purpose: Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Read More

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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by Variant.

Front Pediatr 2022 6;10:878172. Epub 2022 May 6.

Shengli Clinical Medical College, Fujian Provincial Hospital, Fujian Medical University, Fuzhou, China.

Background: Bruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is , whereas that of type II BS is . No significant difference has been found in the clinical phenotype between the two types of BS. Read More

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Educational Case: Osteogenesis imperfecta.

Acad Pathol 2022 12;9(1):100025. Epub 2022 May 12.

Department of Pathology & Anatomy, Eastern Virginia Medical School, Norfolk, VA, USA.

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The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis.

BMC Musculoskelet Disord 2022 May 21;23(1):485. Epub 2022 May 21.

Royal National Orthopaedic Hospital, Brockley Hill Stanmore HA7 4LP, Stanmore, England.

Background: Osteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking. Access to therapy services for adults with Osteogenesis Imperfecta is variable. Read More

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Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.

Am J Case Rep 2022 May 18;23:e935526. Epub 2022 May 18.

Division of Pediatric Surgery, Department of Surgery, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.

BACKGROUND Osteogenesis imperfecta is a skeletal disease with a range of phenotypes, depending on the genetic mutation. Individuals with osteogenesis imperfecta type I often have mutations in COL1A genes. This disease can be associated with chest wall deformities such as pectus excavatum, but the number of patients with this presentation is limited, and genetic variants associated with this phenotype have not been reported. Read More

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Recommendations for whole genome sequencing in diagnostics for rare diseases.

Eur J Hum Genet 2022 May 16. Epub 2022 May 16.

Radboud university medical center, Department of Human Genetics, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. Read More

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Dissecting the phenotypic variability of osteogenesis imperfecta.

Dis Model Mech 2022 05 16;15(5). Epub 2022 May 16.

Department of Molecular Medicine, Biochemistry Unit, University of Pavia, 27100 Pavia, Italy.

Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1 and COL1A2 genes that encode the α1(I) and α2(I) collagen chains. Mutant collagen is partially retained intracellularly, impairing cell homeostasis. Read More

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Impaired proliferation of growth plate chondrocytes in a model of osteogenesis imperfecta.

Biochem Biophys Res Commun 2022 Jul 3;613:146-152. Epub 2022 May 3.

Department of Genetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, People's Republic of China. Electronic address:

Short stature is the second conspicuous characteristic of osteogenesis imperfecta (OI), but the etiological mechanism is unclear. The proliferation of growth plate chondrocytes (GPCs) plays an essential role in longitudinal bone growth, and chondrocyte division deficiency can cause shortened limbs. However, few studies have reported the abnormal changes of growth plate and GPCs in OI. Read More

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Oral Complications in Cancer Patients-Medication-Related Osteonecrosis of the Jaw (MRONJ).

Front Oral Health 2022 26;3:866871. Epub 2022 Apr 26.

Department of Oral and Maxillofacial Diagnostic Sciences, Division of Oral Medicine, University of Florida College of Dentistry, Gainesville, FL, United States.

Medication-Related Osteonecrosis of the Jaw (MRONJ) was first reported in 2003. Despite the progress in the understanding of this oral complication in cancer patients for the past 18 years, there is still discussion about the best way to define MRONJ, prevent the complication, how to diagnose, and the options of treatment available. The initial reports associated MRONJ to bisphosphonates and denosumab, medications that work as bone-modifying agents. Read More

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Genotype-phenotype relationship and follow-up analysis of a Chinese osteogenesis imperfecta cohort.

Endocr Pract 2022 May 9. Epub 2022 May 9.

Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250021, China; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China. Electronic address:

Objective: Evaluating the genotype-phenotype relationship and the effect of treatment on the clinical course of Osteogenesis imperfecta (OI).

Methods: We established a Chinese hospitalized OI cohort and followed up for an average of 6 years. All the patients were confirmed by Whole-exome sequencing. Read More

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