ArticleJournal of inherited metabolic disease2009
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Proposed mechanism for Rft1-mediated scrambling of a dolichol-linked oligosaccharide.bioRxiv : the preprint server for biology · 2025Article
- Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.bioRxiv : the preprint server for biology · 2024Article
- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
- 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
- PMM2-CDG and sensorineural hearing loss.Journal of inherited metabolic disease · 2017Article
- ALG11-CDG: Three novel mutations and further characterization of the phenotype.Molecular genetics and metabolism reports · 2015Article
- Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Biochemical and biophysical research communications · 2014Review
- Congenital disorders of glycosylation: new defects and still counting.Journal of inherited metabolic disease · 2014Review
- Congenital protein hypoglycosylation diseases.The application of clinical genetics · 2012Article
- Insights into complexity of congenital disorders of glycosylation.Biochemia medica · 2012Review
- Congenital disorders of glycosylation (CDG): it's (nearly) all in it!Journal of inherited metabolic disease · 2011Review
- Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.Journal of inherited metabolic disease · 2011Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N-glycosylation, in protein O-glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways. Most CDG are multisystem diseases and a large number of signs and symptoms have already been reported in CDG. An exception to this is deafness. This symptom has not been observed as a consistent feature in CDG. In 2008, a novel defect was identified in protein N-glycosylation, namely in RFT1. This is a defect in the assembly of N-glycans. RFT1 is involved in the transfer of Man(5)GlcNAc(2)-PP-Dol from the cytoplasmic to the luminal side of the endoplasmic reticulum. According to the novel nomenclature (non-italicized gene symbol followed by -CDG) this defect is named RFT1-CDG. Recently, three other patients with RFT1-CDG have been reported and here we report two novel patients. Remarkably, all six patients with RFT1-CDG show sensorineural deafness as part of a severe neurological syndrome. We conclude that RFT1-CDG is the first 'deafness-CDG'. CDG should be included in the work-up of congenital, particularly syndromic, hearing loss.
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