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Osteogenesis imperfecta type 6

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


  1. Homan E, et al. Mutations in SERPINF1 Cause Osteogenesis. Journal of Bone and Mineral Research. November 21, 2011; 26:2798-2803. Accessed 3/27/2012.
  2. Osteogenesis Imperfecta, Type VI. Online Mendelian Inheritance in Man. February 2, 2012; 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. Accessed 3/28/2012.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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