Osteogenesis imperfecta

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Inclusion Criteria

Clinical diagnosis osteogenesis imperfecta based on the presence of childhood onset bone fragility (>1 fracture and/or fractures associated with low impact trauma)

AND one or more of:

  •  Short stature (not associated with any other syndromal diagnosis)
  •  Dentinogenesis Imperfecta
  •  Blue sclerae
  •  Joint hypermobility
  •  Deafness
  • Facial Dysmorphism characteristic of OI/ bone fragility
  •  Joint contractures With an unexplained genetic aetiology


  •  Individuals with features suggestive of classical mild osteogenesis imperfecta (OI type I) who have not undergone prior genetic testing of COL1A1 and COL1A2 should be recruited initially as singletons.

In families where analysis as a singleton does not lead to identification of the underlying causative mutation, recruitment of additional affected family members is encouraged.

Exclusion Criteria

  •  Known genetic aetiology of OI
  •  Other syndromal short stature without bone fragility
  •  Secondary causes of bone fragility such as prolonged treatment with steroids; cerebral palsy; reduced mobility contributing to fractures

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • COL1A1, COL1A2, c-14C>T IFITM5 testing or UKGTN Osteogenesis Imperfecta panel (16 genes)

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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