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Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
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Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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Genotype-phenotype study in type V osteogenesis imperfecta.

Meena Balasubramanian1, Michael J Parker, Ann Dalton

  • 1Sheffield Clinical Genetics Service Sheffield Diagnostic Genetics Service Department of Histopathology, Sheffield Children's NHS Foundation Trust Electron Microscopy Unit, Department of Histopathology, Royal Hallamshire Hospital Academic Unit of Child Health, University of Sheffield, Sheffield, UK Division of Metabolism, Connective Tissue Unit and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

Clinical Dysmorphology
|April 25, 2013
PubMed
Summary
This summary is machine-generated.

Genetic analysis identified a specific IFITM5 gene mutation causing Type V Osteogenesis Imperfecta (OI). This study further characterizes the condition, including common facial features and skeletal deformities in affected individuals.

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Area of Science:

  • Genetics
  • Orthopedics
  • Rare Diseases

Background:

  • Type V Osteogenesis Imperfecta (OI) is a skeletal disorder with moderate-to-severe deformities, hyperplastic callus, and interosseous membrane calcification.
  • Facial dysmorphism in Type V OI is not well-described, and its genetic basis was recently elucidated.

Purpose of the Study:

  • To establish the genetic etiology of Type V OI.
  • To further characterize the clinical phenotype and facial features of patients with Type V OI.

Main Methods:

  • Molecular genetic analysis (pyrosequencing of IFITM5 gene).
  • Phenotypic characterization of patients, including facial features.
  • Skin biopsy with electron microscopy, histology, and collagen analysis.

Main Results:

  • All patients carried a heterozygous variant (c.[-14C>T];[=]) in the 5'-UTR of the IFITM5 gene.
  • Consistent clinical features and facial dysmorphism (short upturned nose, small mouth, prominent chin, greyish-blue sclerae) were observed.
  • Skin biopsy showed elastic fiber clumping; collagen analysis was normal.

Conclusions:

  • The study confirms IFITM5 gene mutation as the cause of Type V OI.
  • Accurate phenotyping, including facial features, is crucial for interpreting genetic results in Type V OI.