ArticleHuman mutation2009
RFT1 deficiency in three novel CDG patients.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Circulating Exosomal MicroRNA Profiles Associated with Heavy Metal Exposure and Short Stature in Children.International journal of molecular sciences · 2026Article
- Proposed mechanism for Rft1-mediated scrambling of a dolichol-linked oligosaccharide.bioRxiv : the preprint server for biology · 2025Article
- An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.Orphanet journal of rare diseases · 2025Article
- Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.bioRxiv : the preprint server for biology · 2024Article
- Towards understanding the extensive diversity of protein N-glycan structures in eukaryotes.Biological reviews of the Cambridge Philosophical Society · 2022Review
- Congenital Disorders of Glycosylation from a Neurological Perspective.Brain sciences · 2021Review
- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.JIMD reports · 2019Article
- Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018Review
- A Glycosylation Mutant of Trypanosoma brucei Links Social Motility Defects In Vitro to Impaired Colonization of Tsetse Flies In Vivo.Eukaryotic cell · 2015Article
- Glycoprotein biosynthesis in a eukaryote lacking the membrane protein Rft1.The Journal of biological chemistry · 2013Article
- DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.American journal of human genetics · 2012Article
- Congenital protein hypoglycosylation diseases.The application of clinical genetics · 2012Article
- Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
- Congenital disorders of glycosylation (CDG): it's (nearly) all in it!Journal of inherited metabolic disease · 2011Review
- Article
- RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.Journal of inherited metabolic disease · 2009Article
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Authors and funding
12 authors at 9 institutions in 6 countries.
Funding
Abstract
The medical significance of N-glycosylation is underlined by a group of inherited human disorders called Congenital Disorders of Glycosylation (CDG). One key step in the biosynthesis of the Glc(3)Man(9)GlcNAc(2)-PP-dolichol precursor, essential for N-glycosylation, is the translocation of Man(5)GlcNAc(2)-PP-dolichol across the endoplasmic reticulum membrane. This step is facilitated by the RFT1 protein. Recently, the first RFT1-deficient CDG (RFT1-CDG) patient was identified and presented a severe N-glycosylation disorder. In the present study, we describe three novel CDG patients with an RFT1 deficiency. The first patient was homozygous for the earlier reported RFT1 missense mutation (c.199C>T; p.R67C), whereas the two other patients were homozygous for the missense mutation c.454A>G (p.K152E) and c.892G>A (p.E298 K), respectively. The pathogenic character of the novel mutations was illustrated by the accumulation of Man(5)GlcNAc(2)-PP-dolichol and by reduced recombinant DNase 1 secretion. Both the glycosylation pattern and recombinant DNase 1 secretion could be normalized by expression of normal RFT1 cDNA in the patients' fibroblasts. The clinical phenotype of these patients comprised typical CDG symptoms in addition to sensorineural deafness, rarely reported in CDG patients. The identification of additional RFT1-deficient patients allowed to delineate the main clinical picture of RFT1-CDG and confirmed the crucial role of RFT1 in Man(5)GlcNAc(2)-PP-dolichol translocation.
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