| Autor: |
Cerino, Mathieu, Gorokhova, Svetlana, Béhin, Anthony, Urtizberea, Jon Andoni, Kergourlay, Virginie, Salvo, Eric, Bernard, Rafaëlle, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin |
| Zdroj: |
Journal of Neuromuscular Diseases; June 2015, Vol. 2 Issue: 2 p131-136, 6p |
| Abstrakt: |
Background:GNE myopathy is a rare autosomal recessively inherited muscle disease resulting from mutations in the gene encoding GNE(UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase), a key enzyme in sialic acid biosynthesis. 154 different pathogenic variants have been previously associated with GNE myopathy. Objective:Describe novel pathogenic variants associated with GNE myopathy in a large French cohort. Methods:We analyzed mutational data from 32 GNE myopathy index patients. Novel, as well as previously published pathogenic variants, were examined for possible deleterious effects on splicing. Results:We describe 13 novel pathogenic variants in GNE,identified in the first large French cohort reported to date. We also find that 6 published pathogenic variants might have a previously unrecognized deleterious effect on splicing. Conclusions:Novel pathogenic GNEvariants described here raise the total number of different pathogenic variants reported to 167, complementing the recently published GNEmutation update. Our novel findings on possible splice-disrupting effects by several variants suggest that the pathogenicity mechanism of these variants could be reinterpreted, expanding our knowledge about the GNEmutational spectrum. |
| Databáze: |
Supplemental Index |
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