- Osteopetrosis, also known as “marble bone disease”, is a term referred to a group of skeletal disease that are characterized by a generalized increase in bone density due to a defective bone resorption by osteoclasts, the cells in charge of this function in bone tissue. Consequently, bone modelling and remodelling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndrome and growth impairment. Three forms of osteopetrosis can be distinguished based on the pattern of inheritance: autosomal recessive, autosomal dominant and X-linked.
- The Igenomix Osteopetrosis Precision Panel can be used to make a directed and accurate differential diagnosis of bone fragility ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The Igenomix Osteopetrosis Precision Panel is indicated for those patients with a suspected clinical diagnosis of osteogenesis imperfecta presenting with the following manifestations:
- Nasal stuffiness
- Short stature
- Frontal bossing
- Large head
- Delayed dentition
- Bone fragility and fractures
- Easy bruising and bleeding
- Recurring infections
- Sleep apnea
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team, encompassing physical rehabilitation and surgical procedures, management of hearing and dental abnormalities, as well as drugs, such as vitamin D or gamma interferon.
- Prenatal detection of osteopetrosis for a directed obstetric and perinatal treatment of affected infants.
- Combining phenotypic and genotypic data to improve diagnostic rate of these patients in the target population as well as identification of mutations associated with unique disease complications.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
Palagano, E., Menale, C., Sobacchi, C. et al. Genetics of Osteopetrosis. Curr Osteoporos Rep 16, 13–25 (2018). https://doi.org/10.1007/s11914-018-0415-2
Wu, C. C., Econs, M. J., DiMeglio, L. A., Insogna, K. L., Levine, M. A., Orchard, P. J., Miller, W. P., Petryk, A., Rush, E. T., Shoback, D. M., Ward, L. M., & Polgreen, L. E. (2017). Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. The Journal of clinical endocrinology and metabolism, 102(9), 3111–3123. https://doi.org/10.1210/jc.2017-01127
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Del Fattore, A., Cappariello, A., & Teti, A. (2008). Genetics, pathogenesis and complications of osteopetrosis. Bone, 42(1), 19–29. https://doi.org/10.1016/j.bone.2007.08.029
Stark, Z., & Savarirayan, R. (2009). Osteopetrosis. Orphanet Journal Of Rare Diseases, 4(1). doi: 10.1186/1750-1172-4-5
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