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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteogenesis imperfecta


Other Names for this Disease
  • OI
  • Brittle bone disease
  • Vrolik disease
  • Fragilitas ossium
  • Lobstein disease
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Inheritance

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How is osteogenesis imperfecta inherited?

Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected person (a de novo mutation). When a person with an autosomal dominant form of OI has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene.[1] If the child inherits the mutated gene, the child's symptoms may be milder, or more severe, than those of the parent.[2]

Less commonly, OI is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with an autosomal recessive condition typically are unaffected, but each carry one mutated copy of the gene. When two carriers of an autosomal recessive form of OI have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
Last updated: 10/9/2015

References
  1. Steiner RD, Pepin MG, Byers PH. Osteogenesis Imperfecta. GeneReviews. 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oi. Accessed 4/29/2009.
  2. Krakow D. OI Issues: Pregnancy Considerations for women with OI. Osteogenesis Imperfecta Foundation. 2007; http://www.oif.org/site/PageServer?pagename=PregOI. Accessed 4/29/2009.
  3. Osteogenesis imperfecta. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta. Accessed 11/11/2011.


Other Names for this Disease
  • OI
  • Brittle bone disease
  • Vrolik disease
  • Fragilitas ossium
  • Lobstein disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.