More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2. The effects of these changes range from death in the perinatal period to barely increased fracture frequency and reflect different types of mutations. Introduction of bisphosphonates during the past 20 years has targeted bone fragility by decreased resorption. The recent recognition of biallelic mutations in genes that affect either collagen assembly and processing or the regulation of osteoblast development has raised hopes for therapies that would be specific for single-gene disorders and identify cellular targets in individuals with the dominant forms of OI. These hopes are yet to be met, but the study of the recessively inherited forms of OI has illuminated the details of the collagen processing pathways.

中文翻译：

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隐性遗传形式的成骨不全症。

超过90％的患有成骨不全症（OI）的人在两个I型胶原基因之一COL1A1和COL1A2中具有杂合突变。这些变化的影响范围从围产期死亡到几乎没有增加的骨折频率并反映了不同类型的突变。在过去的20年中，双膦酸盐的引入通过降低吸收来解决了骨脆性问题。最近对影响胶原蛋白组装和加工或成骨细胞发育调节的基因中的双等位基因突变的认识，为针对单基因疾病的特异性疗法以及在以OI占主导地位的个体中鉴定细胞靶标的疗法带来了希望。这些希望尚未实现，