Genetic Landscape and Phenotypic Spectrum of Osteogenesis Imperfecta in the Kazakhstani Pediatric Population

This study describes the results of whole genome sequencing, first used inKazakhstan in patients with osteogenesis imperfecta, supplemented by the results of a whole-exome study.sequencing is carried out in private laboratories. The study involved 40 children diagnosed with OI, whowere accepted into the National Research Center for Maternal and Child Health "University MedicalCenter" from July to December 2021.

本研究阐述了全基因组测序（Whole Genome Sequencing）的相关成果——该技术首次在哈萨克斯坦应用于成骨不全症（Osteogenesis Imperfecta，简称OI）患者，并辅以全外显子组研究（Whole-Exome Study）的结果。测序工作在私营实验室开展。本研究纳入了2021年7月至12月期间收治于国家妇幼健康研究中心"大学医学中心"的40名确诊为成骨不全症的儿童。