Liu Gang, Chen Jia, Zhou Yangzhong, Zuo Yuzhi, Liu Sen, Chen Weisheng, Wu Zhihong, Wu Nan
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.
J Spine Surg. 2017 Dec;3(4):666-678. doi: 10.21037/jss.2017.10.01.
Osteogenesis imperfecta (OI) is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis. In this review, we summarize the etiology of scoliosis in OI, especially the genetic studies of different types. We aim to provide a systematic review of the genetic etiology and clinical suggestions of scoliosis in OI.
成骨不全症（OI）是一种遗传性结缔组织疾病，包括蓝色巩膜、听力丧失、导致骨骼脆弱和畸形的骨骼发育异常。它通常由胶原蛋白相关基因突变引起，这可能导致骨形成异常。脊柱侧凸是最常见且严重的脊柱表型之一，在所有OI患者中，其报告发生率约为26%-74.5%。最近的研究突破表明，根据基因突变情况，OI可分为16种以上类型，且不同类型的脊柱侧凸程度不同。在本综述中，我们总结了OI中脊柱侧凸的病因，特别是不同类型的遗传学研究。我们旨在对OI中脊柱侧凸的遗传病因及临床建议进行系统综述。
