Department of Pediatric Orthopedic, Center for Orthopedic Surgery, The Third Affiliated Hospital of Southern Medical University, Guangzhou 510515, China.
Department of Joint Surgery, Center for Orthopedic Surgery, The Third Affiliated Hospital of Southern Medical University, Guangzhou 510515, China.
J Immunol Res. 2022 May 19;2022:5068523. doi: 10.1155/2022/5068523. eCollection 2022.
As a heterogeneous hereditary connective tissue disorder, osteogenesis imperfecta (OI) is clinically characterized by increased fracture susceptibility. Analysis of genetic pathogenic variants in patients with OI provides a basis for genetic counseling and prenatal diagnosis.
In this study, 14 diagnosed OI patients from sporadic Chinese families were enrolled to be screened for potential mutations from these patients by next-generation sequencing technology.
34 different variants were identified. 18 variants were from 4 OI-related genes including , , , and , and 10 variants are novel. Most OI patients (11 out of 14, 78%) harbor variants in type I collagen genes.
Our results support previously established estimates of the distribution and prevalence of OI mutations and highlight both phenotype and genetic heterogeneity among and within families. We report several novel variants of OI, which expands the clinical spectrum of OI. In summary, our data provides disease-causing genes information for genetic counseling towards OI patients and families and also provides a reference for clinicians in the diagnosis of OI, also in prenatal diagnosis of this disease.
成骨不全症（OI）是一种异质性遗传性结缔组织疾病，其临床特征为骨折易感性增加。分析 OI 患者的遗传致病性变异为遗传咨询和产前诊断提供了依据。
本研究纳入了 14 名来自散发性中国家庭的确诊 OI 患者，通过下一代测序技术对这些患者进行潜在突变的筛查。
共鉴定出 34 种不同的变异，其中 18 种变异来自 COL1A1、COL1A2、COL2A1 和 FKBP10 等 4 个 OI 相关基因，10 种变异是新的。大多数 OI 患者（14 例中的 11 例，78%）携带 I 型胶原基因变异。
我们的结果支持先前建立的 OI 突变分布和流行率的估计，并强调了不同家庭和家庭内的表型和遗传异质性。我们报告了几种 OI 的新变异，扩大了 OI 的临床谱。总之，我们的数据为 OI 患者及其家属的遗传咨询提供了致病基因信息，也为临床医生诊断 OI 以及该病的产前诊断提供了参考。
