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Genetic and Rare Diseases Information Center (GARD)

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Osteogenesis imperfecta

Other Names for this Disease
  • Brittle bone disease
  • Fragilitas ossium
  • OI
  • Vrolik disease
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How is osteogenesis imperfecta inherited?

Most types of osteogenesis imperfecta (OI) have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. The altered copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. Each child of an individual with a dominantly inherited form of OI has a 50% (1 in 2) chance of inheriting the mutation.[1] The child would have the same OI-causing mutation as the parent, although the child’s symptoms may be milder or more severe than the parent’s symptoms.[2] Many people with type I or type IV OI inherit a mutation from a parent who has the disorder, while most infants with more severe forms (such as type II and type III) have no history of the condition in their family and have a new (sporadic) mutation that occurred for the first time in their cells.[3]

Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation.[1] Some cases of osteogenesis imperfecta type III are autosomal recessive, as well as some other types of OI that are caused by mutations in the CRTAP or LEPRE1 genes.[3]

It is recommended that couples at risk of having a child with OI seek genetic counseling before conception, or as early in the pregnancy as possible. A genetic counselor can provide information on OI genetics and prenatal diagnosis.[2] Instructions for locating a genetics professional are provided in the Services tab of the home page for this topic.

Last updated: 10/5/2011

  1. Steiner RD, Pepin MG, Byers PH. Osteogenesis Imperfecta. GeneReviews. 2005; Accessed 4/29/2009.
  2. Krakow D. OI Issues: Pregnancy Considerations for women with OI. Osteogenesis Imperfecta Foundation. 2007; Accessed 4/29/2009.
  3. Osteogenesis imperfecta. Genetics Home Reference (GHR). 2007; Accessed 11/11/2011.