Osteogenesis Imperfecta

Overview

• Osteogenesis Imperfecta (OI) is a disorder of bone fragility caused generally by mutations in the COL1A1 and COL1A2 genes that encode type I collagen. OI is one of the most common skeletal dysplasias. It is a generalized disease that is phenotypically and molecularly heterogeneous manifesting with a broad array of signs and symptoms including connective tissue and systemic manifestations in addition to bone fragility. 

• The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by primary defects in type 1 collagen, whereas autosomal recessive forms are caused by deficiency of proteins which interact with type 1 procollagen. There are at least 8 different types of the disease based on the inheritance. The differential diagnosis of OI includes child abuse, rickets, osteomalacia and other rare skeletal syndromes.  

• The Igenomix Osteogenesis Imperfecta Precision Panel can be used to make a directed and accurate differential diagnosis of bone fragility ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

The Igenomix Osteogenesis Imperfecta Precision Panel is indicated for those patients with a suspected clinical diagnosis of osteogenesis imperfecta presenting with the following manifestations: 

• Blue sclerae 
• Triangular facies 
• Macrocephaly 
• Hearing loss 
• Defective dentition 
• Barrel chest 
• Scoliosis 
• Limb deformities 
• Pregnancy ultrasound: Limb-length abnormalities at 15-18 weeks’ gestation, decreased mineralization of calvaria, bowing of the long bones, multiple rib fractures 
• Fractures 
• Joint laxity 
• Growth retardation 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of treatment with a multidisciplinary team, encompassing physical rehabilitation and surgical procedures, management of hearing, dental and pulmonary abnormalities, as well as drugs, such as bisphosphonates and recombinant human growth hormone.  

• Prenatal detection of osteogenesis imperfecta for a directed obstetric and perinatal treatment of affected infants. 
• Combining phenotypic and genotypic data to improve diagnostic rate of these patients in the target population.  
• Risk assessment of asymptomatic family members according to the mode of inheritance

Genes & Diseases