Okamoto Nobuhiko, Kadoya Machiko, Wada Yoshinao
Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Japan.
Department of Molecular Medicine Research Institute, Osaka Women's and Children's Hospital Izumi Japan.
JIMD Rep. 2025 Apr 4;66(3):e70011. doi: 10.1002/jmd2.70011. eCollection 2025 May.
Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation-related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from mild to severe. The phenotypic presentation of CDG can vary significantly. Identifying altered protein glycosylation is crucial for accurate diagnosis. Our research institute has contributed to the CDG diagnostic support center in Japan, developing new analytical techniques utilizing mass spectrometry. These techniques allow for the identification of defects in -glycosylation, -glycosylation, and combined glycosylation pathways. Advances in genetic analysis, including whole exome sequencing, have revealed that certain types of CDG are more prevalent than previously recognized. We have contributed to the molecular diagnosis of 66 CDG patients in Japan. Although PMM2-CDG is the most common form of CDG, it was only detected in 17% of the patients in the present study, suggesting that its incidence is much lower in Japan compared to European countries. We also conducted a comprehensive review of case reports of CDG in Japan, further describing the clinical and molecular spectrum of the disease in this population.
先天性糖基化障碍（CDG）是一组由糖基化途径不同步骤缺陷引起的异质性疾病。已知有200多种人类糖基化相关疾病。其中许多缺陷会导致多系统表现，通常累及中枢神经系统，症状从轻到重不等。CDG的表型表现差异很大。识别蛋白质糖基化改变对于准确诊断至关重要。我们的研究所为日本的CDG诊断支持中心做出了贡献，开发了利用质谱的新分析技术。这些技术能够识别N-糖基化、O-糖基化和联合糖基化途径中的缺陷。包括全外显子测序在内的基因分析进展表明，某些类型的CDG比以前认识到的更为普遍。我们为日本66例CDG患者的分子诊断做出了贡献。尽管PMM2-CDG是最常见的CDG形式，但在本研究中仅在17%的患者中检测到，这表明其在日本的发病率与欧洲国家相比要低得多。我们还对日本CDG病例报告进行了全面综述，进一步描述了该人群中该疾病的临床和分子谱。
