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Osteogenesis imperfecta type 6
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Overview
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]
References
- Homan E, et al. Mutations in SERPINF1 Cause Osteogenesis. Journal of Bone and Mineral Research. November 21, 2011. http://onlinelibrary.wiley.com/doi/10.1002/jbmr.487/abstract. Accessed March 27, 2012.
- Osteogenesis Imperfecta, Type VI. Online Mendelian Inheritance in Man. http://omim.org/entry/613982. Accessed March 28, 2012.
- Becker J, et al. Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogensis Imperfecta. American Journal of Human Genetics. March 2011. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059418/. Accessed March 28, 2012.
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