ISSN: 2582-788X (Online)
Molecular Diversity of Osteogenesis Imperfecta
Osteogenesis imperfecta is a hereditary abnormality marked by extreme bone fragility, osteoporosis, and diminished bone mineral density. It is due to the mutation in genes like COL1A1 and COL1A2 responsible for the synthesis of type I collagen. 90% of osteogenesis imperfecta is stated to be produced by dominant autosomal mutations such as COL1A1 or COL1A2 mutations, while 10% of osteogenesis imperfecta is caused by recessive autosomal mutations such as SERPINF1, LEPRE1, SP7, SERPINH1, FKBP10, PLOD2, PPIB, and CRTAP alterations. 20 genes that are linked with osteogenesis imperfecta type I to type XX are discussed in this review article. Among these genes, 5 genes are associated with autosomal dominant, 14 genes causing autosomal recessive and MBTPS2 is located on the X chromosome which is associated with X-linked recessive. Cyclical bisphosphonate therapy has been found to have a positive effect on fracture incidence, bone mineral mass, agility score, and episodes of pain. Similarly, growth hormone therapy and surgical therapy are also valuable to some extent. This study would provide knowledge for clinicians and researchers in search of a better understanding of osteogenesis imperfecta and to combat this disease.