Publication

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathyons regarding using clustering as feature extraction for classification.

I.Flones, P. Sztromwasser, K. Haugarvoll, C. Dölle, M. Lykouri, T.Schwarzlmüller, I. Jonassen, H. Miletic, S. Johansson, P.M. Knappskog, L. A. Bindoff, C. Tzoulis

Published
February 10, 2016
journal
DOI
https://doi.org/10.1371/journal.pone.0149055
WGS
Diagnostics
Rare Disease
Structural Variants
In two siblings with early-onset encephalopathy dystonia and epilepsy, whole-exome sequencing revealed a novel single heterozygous SLC19A3 mutation (c.337T>C).

Although Sanger-sequencing and copy-number analysis revealed no other aberrations, RNA-sequencing in brain tissue suggested the second allele was silenced. Whole-genome sequencing resolved the genetic defect by revealing a novel 45,049 bp deletion in the 5’-UTR region of the gene abolishing the promoter. High dose thiamine and biotin therapy was started in the surviving sibling who remains stable. In another patient two novel compound heterozygous SLC19A3 mutations were found. He improved substantially on thiamine and biotin therapy.

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