Molecular genetics of osteogenesis imperfecta

R. S. Moekti, M. G.S. Hanafi, F. Jazaldi, F. P. Gultom, E. I. Auerkari

Research output: Contribution to journalConference articlepeer-review


Osteogenesis imperfecta (OI) or imperfect formation of bone, is a disorder that affects the bone genetically. The range of clinical presentation of osteogenesis imperfecta lies widely from first trimester intrauterine day to later in life. Depends on the clinical features, it's hard to distinguish OI fractures from other causes of fractures, like genetic, non-genetic, and non-accidental injury. OI is a group of genetically heterogeneous bone-related genetic disorders, characterized, by bone fragility, frequent fractures, deformities of the spine and limbs, with just minimal trauma, this disease is also known as "brittle bone disease". Many recent studies identified molecular genetic defects underlying Osteogenesis Imperfecta. Osteogenesis imperfecta has a prevalence of 1 in 15-20,000 newborns. Gene signaling events of osteogenesis or collagenases pathobiology will give use another approach for the treatment of Osteogenesis Imperfecta in recent days. Osteogenesis imperfecta is a disorder related to the bone with a broad description of characteristics. Most of the individuals with Osteogenesis Imperfecta are caused by correlating gene mutation in collagenogenesis encoding gene, which is COLIA1 and COL1A2, but in recent years, many other genetic causes have been known as the lead of this disease, such as mutation of such genes, LEPRE, SERPIN, WNT, BMP, IFITM. These genes are known as the correlated gene in the collagenogenesis and the other correlates to bone formation and maturation.

Original languageEnglish
Article number012074
JournalJournal of Physics: Conference Series
Issue number1
Publication statusPublished - 14 Jul 2021
Event10th International Seminar on New Paradigm and Innovation of Natural Sciences and itsApplication, ISNPINSA 2020 - Virtual, Online, Indonesia
Duration: 24 Sept 202025 Sept 2020


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