Epidemiology

OI affects people of all races and has been reported in all continents. OI is the most common cause of hereditary childhood bone fragility, with the overall prevalence of OI estimated to be between 1 in 10,000 to 1 in 20,000 live births.[4] Approximately 25,000 individuals in the US are thought to be affected by OI.[5] However, these figures are likely to be underestimates as people with the milder forms of OI may go unrecognised.[6][7]

With the rapid discovery of new genes that cause OI, genetic classification comprising more than 20 types has been defined.[4] COL1A1 and COL1A2-related OI, which are transmitted as autosomal dominant disorders and include OI types I, II, III, and IV, account for up to 90% of all cases of OI, while the remaining subtypes are rare.[8][9][10] See Classification.

Some of the rare autosomal recessively transmitted forms of OI occur at a higher frequency in certain populations due to founder variants, i.e., variants that were present in a single ancestor or small number of ancestors from which the population arose (e.g., OI type VII [CRTAP; First Nations in Ontario, Canada], OI type VIII [P3H1; West Africa], and OI type XI [FKBP10; Turkey]).[11]

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