Is there a genetic test for osteogenesis imperfecta?
There is no specific test for OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms.
What gene is mutated in OI?
About 80%–90% of OI cases are caused by autosomal dominant mutations in the type 1 collagen genes, COL1A1 and COL1A2. Mutations in one or the other of these genes cause the body to make either abnormally formed collagen or too little collagen. Mutations in these genes cause OI Types I through IV.
How do you diagnose OI?
How do healthcare providers diagnose osteogenesis imperfecta (OI)? If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy. If a parent or sibling has OI, a healthcare provider can test the DNA of the fetus for the presence of an OI mutation.
What is an OI disability?
Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause.
Can osteogenesis imperfecta be prevented?
Because brittle bone disease is a genetic condition, you cannot prevent it. If you or your partner has OI or have a relative with the condition, speak with a genetic counselor. They can advise you about the risks of passing on the condition.
How does OI affect the body?
Overview. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. The condition affects the body’s ability to produce collagen, a protein in the body’s connective tissue.
What is the best cure for osteogenesis imperfecta?
To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta (OI). The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible.
What medications do people with OI take?
Class Summary. Bisphosphonates are drugs that have been used off label for the treatment of osteogenesis imperfecta (OI). Drugs in this class may slow the loss of existing bones and may reduce long bone fractures and vertebral compressions. The most commonly used drug in this class is pamidronate.
What is the life expectancy of a person with brittle bone disease?
Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).
What is the best panel to diagnose osteogenesis imperfecta?
Is ideal for patients with a clinical suspicion of osteogenesis imperfecta. The genes on this panel are included in the Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.
What are the genetic etiologies of osteogenesis imperfecta (OI)?
About 90% of patients have mutations in type I collagen genes ( COL1A1 and COL1A2 ). COL1A1/2 -related OI is inherited in an autosomal dominant manner. Several additional genes have recently been identified. The primary differential diagnosis for individuals with features of COL1A1/2 -related OI are autosomal recessive subtypes of OI.
What does suboptimal coverage mean on a gene panel?
# The gene has suboptimal coverage (means <90% of the gene’s target nucleotides are covered at >20x with mapping quality score (MQ>20) reads), and/or the gene has exons listed under Test limitations section that are not included in the panel as they are not sufficiently covered with high quality sequence reads.
Is COL1A1/2-related Oi autosomal recessive or dominant?
The primary differential diagnosis for individuals with features of COL1A1/2 -related OI are autosomal recessive subtypes of OI.