ArticleEuropean journal of human genetics : EJHG2023
Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.Human genetics · 2026Article
- Review
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- Application of matrix-assisted laser desorption/ionization time-of flight mass spectrometry in clinical testing and diagnosis.Frontiers in cellular and infection microbiology · 2025Review
- Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.Molecular genetics & genomic medicine · 2024Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Ambivalence and regret in genome sequencing.European journal of human genetics : EJHG · 2023Article
- A new haplotype-resolved turkey genome to enable turkey genetics and genomics research.GigaScience · 2022Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG) is a group inherited disorders. It is characterized by multi-organ dysfunction with significant morbidity and mortality. MAN2B2-CDG caused by pathogenic variants in the MAN2B2 gene was a rare CDG. To date, only one case of MAN2B2-CDG was reported. The representative clinical features were immune deficiency, dysmorphic facial features, coagulopathy, and severe developmental delay. More cases are needed to support the pathogenesis of MAN2B2 variation and elucidate its clinical heterogeneity. In this study, we described the clinical presentations of a CDG proband with compound heterozygous variants in MAN2B2. Serum N-glycan profiling was measured by MALDI coupled to time-of-flight mass spectrometry (MALDI-TOF MS). MALDI-TOF MS analysis of patient serum showed disorders of N-linked glycosylation, including increased N-glycans and elevated Man5/Man6 and Man5/Man9 value. Our proband presented severe developmental delay, dysmorphic facial features as in the previous case. But our case presented new features, including cleft palate and hypospadias with no immune deficiency. Our data expands both the molecular and clinical phenotypes of MAN2B2-CDG and highlights the importance of the role of MAN2B2 gene in CDG.
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