Tsuda M, Sakiyama T
Department of Pediatrics, Nihon University School of Medicine.
Nihon Rinsho. 1994 Sep;52(9):2426-9.
Osteogenesis imperfecta (OI) is the most prevalent osteoporosis syndrome in childhood and is characterized by fractures and skeletal deformities. In almost all individuals, OI results from mutations in one of the two genes (COL1A1 and COL1A2) that encode the chains of type I collagen. OI can be divided into four major groups, type I, II, III, and IV, that differ in clinical presentation, mode of inheritance, radiographic picture, and, for the most part, the biochemical basis of the connective disorder. The molecular basis of OI is mainly discussed.
成骨不全症（OI）是儿童期最常见的骨质疏松综合征，其特征为骨折和骨骼畸形。几乎所有个体的OI都是由编码I型胶原链的两个基因（COL1A1和COL1A2）之一发生突变所致。OI可分为四个主要类型，即I型、II型、III型和IV型，它们在临床表现、遗传方式、影像学表现以及在很大程度上结缔组织疾病的生化基础方面存在差异。本文主要讨论了OI的分子基础。
