ArticleAmerican journal of human genetics2012
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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45 citing papers in PubMed, 75 citations in OpenAlex.
- A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation.HGG advances · 2026Article
- Genetic landscape of human oocyte/embryo defects.Cell genomics · 2026Article
- DDOST mediates cervical cancer cell malignant progression by interacting with SMARCA4.American journal of cancer research · 2026Article
- Article
- Progress in research on DDOST dysregulation in related diseases.Glycoconjugate journal · 2025Review
- The oligosaccharyltransferase complex is an essential component of multiple myeloma plasma cells.Molecular therapy. Oncology · 2025Article
- Construction of a glycosylation-related prognostic signature for predicting prognosis, tumor microenvironment, and immune response in soft tissue sarcoma.Frontiers in oncology · 2025Article
- Induction of oxidative- and endoplasmic-reticulum-stress dependent apoptosis in pancreatic cancer cell lines by DDOST knockdown.Scientific reports · 2024Article
- DDOST is associated with tumor immunosuppressive microenvironment in cervical cancer.Discover oncology · 2024Article
- Genome-wide CRISPR/Cas9 screen identifies regulators of BCMA expression on multiple myeloma cells.Blood cancer journal · 2024Article
- Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.Scientific reports · 2023Article
- Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.Frontiers in pediatrics · 2023Review
- DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.Journal of inherited metabolic disease · 2023Article
- MITA oligomerization upon viral infection is dependent on its N-glycosylation mediated by DDOST.PLoS pathogens · 2022Article
- The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.Journal of human genetics · 2022Article
- NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems.Frontiers in cell and developmental biology · 2022Article
- DDOST Correlated with Malignancies and Immune Microenvironment in Gliomas.Frontiers in immunology · 2022Article
- Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.American journal of human genetics · 2021Article
- Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.Orphanet journal of rare diseases · 2021Article
- Prognostic Biomarker DDOST and Its Correlation With Immune Infiltrates in Hepatocellular Carcinoma.Frontiers in genetics · 2021Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation. Approximately 20% of patients do not survive beyond the age of 5 years old as a result of widespread organ dysfunction. Although most patients receive a CDG diagnosis based on abnormal glycosylation of transferrin, this test cannot provide a genetic diagnosis; indeed, many patients with abnormal transferrin do not have mutations in any known CDG genes. Here, we combined biochemical analysis with whole-exome sequencing (WES) to identify the genetic defect in an untyped CDG patient, and we found a 22 bp deletion and a missense mutation in DDOST, whose product is a component of the oligosaccharyltransferase complex that transfers the glycan chain from a lipid carrier to nascent proteins in the endoplasmic reticulum lumen. Biochemical analysis with three biomarkers revealed that N-glycosylation was decreased in the patient's fibroblasts. Complementation with wild-type-DDOST cDNA in patient fibroblasts restored glycosylation, indicating that the mutations were pathological. Our results highlight the power of combining WES and biochemical studies, including a glyco-complementation system, for identifying and confirming the defective gene in an untyped CDG patient. This approach will be very useful for uncovering other types of CDG as well.
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