Ying Shen, Zhihua Zhang, Yucan Zheng, Yu Jin, Qian Lin, Bixia Zheng, Weixia Cheng, Zhifeng Liu
Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Front Pediatr. 2020 Dec 3;8:600446. doi: 10.3389/fped.2020.600446. eCollection 2020.
The aim of this study was to investigate the clinical utility of panel-based next-generation sequencing (NGS) in the diagnostic approach of glycogen storage disease (GSD). We performed a retrospective review of the 32 cases with suspected GSDs between April 2013 and November 2019 through panel-based NGS, clinical and biochemical data and long-term complications. Of the 32 clinical cases, we identified 41 different variants, including 24 missense (58.5%), one synonymous (2.4%), three nonsense (8%), one splice (2.4%), four frameshift (9.8%), one deletion (2.4%), four insertions (9.8%), two deletion-insertion (4.9%) and one duplication(2.4%), of which 13(31.7%) were previously unreported in the literature. In addition, patients with different types of GSDs showed important differences in biochemical parameters (i.e., CK, rGGT, TG, and UA). The panel-based NGS played an important diagnostic role in the suspicious GSDs patients, especially in the mild phenotype and ruled out detectable pathologic conditions. Besides, differences between our GSDs patients reflect biochemical heterogeneity.
本研究的目的是探讨基于基因panel的下一代测序（NGS）在糖原贮积病（GSD）诊断方法中的临床应用价值。我们通过基于基因panel的NGS、临床和生化数据以及长期并发症，对2013年4月至2019年11月期间32例疑似GSD患者进行了回顾性研究。在这32例临床病例中，我们鉴定出41种不同的变异，包括24种错义变异（58.5%）、1种同义变异（2.4%）、3种无义变异（8%）、1种剪接变异（2.4%）、4种移码变异（9.8%）、1种缺失变异（2.4%）、4种插入变异（9.8%）、2种缺失-插入变异（4.9%）和1种重复变异（2.4%），其中13种（31.7%）在文献中未曾报道。此外，不同类型GSD患者的生化参数（即CK、rGGT、TG和UA）存在重要差异。基于基因panel的NGS在疑似GSD患者中发挥了重要的诊断作用，尤其是在轻度表型患者中，并排除了可检测到的病理状况。此外，我们的GSD患者之间的差异反映了生化异质性。
