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Genetic and Rare Diseases Information Center (GARD)

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Osteogenesis imperfecta type 6


Other Names for this Disease
  • OI type 6
  • OI type VI
  • OI6
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Overview



What is osteogenesis imperfecta type 6?

What are the signs and symptoms of osteogenesis imperfecta type 6?

Is genetic testing available for osteogenesis imperfecta?


What is osteogenesis imperfecta type 6?

Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily.  When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern.  Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.[1][2][3]
Last updated: 4/5/2012

What are the signs and symptoms of osteogenesis imperfecta type 6?

Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology).  People with this condition have bones that are thin (osteopenia) and break easily beginning  after 6 months of age.  A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct "fish-scale" pattern.  Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected.[1][4]
Last updated: 4/5/2012

Is genetic testing available for osteogenesis imperfecta?

Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type.[5] Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known.

Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative.[5]

GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members.
Last updated: 4/5/2012

References
  1. Homan E, et al. Mutations in SERPINF1 Cause Osteogenesis. Journal of Bone and Mineral Research. November 21, 2011; 26:2798-2803. http://onlinelibrary.wiley.com/doi/10.1002/jbmr.487/abstract. Accessed 3/27/2012.
  2. Osteogenesis Imperfecta, Type VI. Online Mendelian Inheritance in Man. February 2, 2012; http://omim.org/entry/613982. Accessed 3/28/2012.
  3. Becker J, et al. Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogensis Imperfecta. American Journal of Human Genetics. March 2011; 88(3):362-371. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059418/. Accessed 3/28/2012.
  4. Glorieux F, et al. Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect. Journal of Bone and Mineral Research. January 2002; http://onlinelibrary.wiley.com/doi/10.1359/jbmr.2002.17.1.30/full. Accessed 3/30/2012.
  5. Robert D Steiner, Melanie G Pepin, Peter H Byers. Osteogenesis Imperfecta. GeneReviews. January 28, 2005; http://www.ncbi.nlm.nih.gov/books/NBK1295/. Accessed 10/5/2011.