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

The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry

Kyoung Bo Kim  1 , Gi Su Lee  2 , Soyoung Shin  3 , Dong-Chan Kim  4 , Donggun Seo  4 , Hyeongjin Kweon  4 , Hyein Kang  1 , Sunggyun Park  1 , Do-Hoon Kim  1 , Namhee Ryoo  1 , Soyoung Lee  5 , Jung Sook Ha  1
Affiliations

The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry

Kyoung Bo Kim et al. Ann Lab Med. .
No abstract available

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Conflict of interest statement

CONFLICTS OF INTEREST

None declared.

Figures

Fig. 1
Fig. 1. Distribution of MAN1B1 variants reported in the literatures and this paper. (A) Genomic locations of variants associated with MAN1B1-congenital disorder of glycosylation. The black rectangles indicate the 13 exons, and the gray rectangles indicate the 5′-untranslated region and the 12 introns. The upward-pointing text indicates single-nucleotide substitutions, and the downward-facing text indicates frameshifting deletions, except for one large deletion variant (c.465+1460_620+527del). The two variants found in our patient are highlighted in bold red. (B) Alignment of the mutations to the functional domains of endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (NP_057303.2) encoded by MAN1B1 (NM_016219.5). The left vertical bar represents the number of times the mutation has been reported, and the horizontal bar below indicates the location of amino acids. The corresponding amino acid changes for the two variants reported in this paper are highlighted in bold red.
Fig. 2
Fig. 2. Mass spectra of N-glycan profiling using Matrix-assisted Laser Desorption Ionization Time-of-flight Mass Spectrometry following peptide-N-glycosidase F treatment. The mass spectra of samples from the patient (A) revealed an increase in mannose-rich glycans (upward black triangle) and a decrease in N-acetyl glucosamine-binding glycans (downward black triangle) compared with that in the healthy control (B). A hybrid-type N-glycan was observed at m/z 1913.7 (red), which is specific to patients with MAN1B1 deficiency. Green circles, mannose; yellow circles, galactose; blue squares, N-acetyl glucosamine; red triangles, fucose; and purple diamonds, sialic acid.
See this image and copyright information in PMC

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