首例通过全外显子组测序和基质辅助激光解吸电离飞行时间质谱诊断的韩国先天性糖基化障碍病例。 - Suppr

The First Korean Case of -Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry.

作者信息

Kim Kyoung Bo, Lee Gi Su, Shin Soyoung, Kim Dong-Chan, Seo Donggun, Kweon Hyeongjin, Kang Hyein, Park Sunggyun, Kim Do-Hoon, Ryoo Namhee, Lee Soyoung, Ha Jung Sook

机构信息

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

Department of Gynecology, Keimyung University School of Medicine, Daegu, Korea.

出版信息

Ann Lab Med. 2025 Jan 1;45(1):112-115. doi: 10.3343/alm.2024.0226. Epub 2024 Nov 7.

DOI:10.3343/alm.2024.0226

PMID:39506209

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11609710/

Abstract

摘要

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The First Korean Case of -Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry.首例通过全外显子组测序和基质辅助激光解吸电离飞行时间质谱诊断的韩国先天性糖基化障碍病例。

Ann Lab Med. 2025 Jan 1;45(1):112-115. doi: 10.3343/alm.2024.0226. Epub 2024 Nov 7.

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Melioidosis presenting as a mycotic aneurysm in a Korean patient, diagnosed by 16S rRNA sequencing and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.一名韩国患者的类鼻疽病表现为真菌性动脉瘤，通过16S rRNA测序和基质辅助激光解吸/电离飞行时间质谱法诊断。

Int J Infect Dis. 2015 Sep;38:62-4. doi: 10.1016/j.ijid.2015.07.012. Epub 2015 Jul 26.

Bacteremia caused by Enterobacter asburiae misidentified biochemically as Cronobacter sakazakii and accurately identified by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: a case report.肠杆菌属aspergillus 引起的菌血症被生化错误鉴定为阪崎克罗诺杆菌，并通过基质辅助激光解吸/电离飞行时间质谱准确鉴定：一例报告。

J Med Case Rep. 2022 Jan 19;16(1):19. doi: 10.1186/s13256-021-03241-2.

Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation.基质辅助激光解吸/电离质谱法检测糖基化先天性疾病的诊断性糖肽标志物

Mass Spectrom (Tokyo). 2020;9(1):A0084. doi: 10.5702/massspectrometry.A0084. Epub 2020 Apr 23.

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.使用内切糖苷酶 H 作为 MAN1B1-CDG 患者的诊断工具。

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Chemically-assisted fragmentation combined with multi-dimensional liquid chromatography and matrix-assisted laser desorption/ionization post source decay, matrix-assisted laser desorption/ionization tandem time-of flight or matrix-assisted laser desorption/ionization tandem mass spectrometry for improved sequencing of tryptic peptides.化学辅助碎裂结合多维液相色谱和基质辅助激光解吸/电离源后衰变、基质辅助激光解吸/电离串联飞行时间或基质辅助激光解吸/电离串联质谱用于改进胰蛋白酶肽段的测序。

Eur J Mass Spectrom (Chichester). 2005;11(2):169-79. doi: 10.1255/ejms.734.

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Pharmacogn Mag. 2017 Oct-Dec;13(52):663-667. doi: 10.4103/pm.pm_54_17. Epub 2017 Nov 13.

Preliminary investigation of glycosylated proteins by capillary electrophoresis and capillary electrophoresis/mass spectrometry using electrospray ionization and by matrix-assisted laser desorption ionization/time-to-flight mass spectrometry.采用电喷雾电离的毛细管电泳和毛细管电泳/质谱法以及基质辅助激光解吸电离/飞行时间质谱法对糖基化蛋白进行初步研究。

Rapid Commun Mass Spectrom. 1995;Spec No:S95-106.

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Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.MAN1B1-CDG 患者的同胞具有新的生化特征。

Cells. 2021 Nov 10;10(11):3117. doi: 10.3390/cells10113117.

MAN1B1-CDG: novel patients and novel variant.甘露糖-1-磷酸尿苷酰转移酶缺陷症 1B 型：新病例和新变异。

J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1207-1209. doi: 10.1515/jpem-2021-0038. Print 2021 Sep 27.

MAN1B1-CDG: Three new individuals and associated biochemical profiles.曼-1B1型先天性糖基化障碍：三名新患者及相关生化特征

Mol Genet Metab Rep. 2021 Jun 2;28:100775. doi: 10.1016/j.ymgmr.2021.100775. eCollection 2021 Sep.

The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin.人甘露聚糖酶 Man1b1 的细胞质尾巴有助于错误折叠的α1-抗胰蛋白酶的催化非依赖性质量控制。

Proc Natl Acad Sci U S A. 2020 Oct 6;117(40):24825-24836. doi: 10.1073/pnas.1919013117. Epub 2020 Sep 21.

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.MAN1B - 先天性糖基化障碍：具有独特表型的新型变异体及文献综述

Eur J Med Genet. 2019 Feb;62(2):109-114. doi: 10.1016/j.ejmg.2018.06.011. Epub 2018 Jun 14.

Perspectives on Glycosylation and Its Congenital Disorders.糖基化及其先天性疾病的研究进展。

Trends Genet. 2018 Jun;34(6):466-476. doi: 10.1016/j.tig.2018.03.002. Epub 2018 Mar 29.

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.与MAN1B1和SEC23A纯合突变相关的体细胞过度生长。

Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000737. doi: 10.1101/mcs.a000737.

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.MAN1B1突变导致可识别的表型：一例病例报告及未来展望。

Mol Syndromol. 2015 Jul;6(2):58-62. doi: 10.1159/000371399. Epub 2015 Mar 4.

MALDI imaging mass spectrometry of N-linked glycans on formalin-fixed paraffin-embedded murine kidney.福尔马林固定石蜡包埋小鼠肾脏中N-聚糖的基质辅助激光解吸电离成像质谱分析

Anal Bioanal Chem. 2015 Mar;407(8):2127-39. doi: 10.1007/s00216-014-8293-7. Epub 2014 Dec 2.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.编码α1,2-甘露糖苷酶的 MAN1B1 基因突变可导致常染色体隐性遗传性智力障碍。

Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006.

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The First Korean Case of -Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry.

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