Title: RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation
Authors: Jaeken, Jacques ×
Vleugels, Wendy
Régal, Luc
Corchia, C
Goemans, Nathalie
Haeuptle, M
Foulquier, François
Hennet, T
Matthijs, Gert
Dionisi-Vici, C #
Issue Date: Dec-2009
Publisher: MTP Press
Series Title: Journal of Inherited Metabolic Disease vol:32 issue:suppl 1 pages:335-338
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.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Section Child - Miscellaneous (-)
Laboratory for Molecular Diagnosis
Laboratory for Biochemical Neuroendocrinology
× corresponding author
# (joint) last author

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