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https://ahro.austin.org.au/austinjspui/handle/1/25134| Title: | Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS. | Austin Authors: | Mazzola, Laure;Oliver, Karen L;Labalme, Audrey;Baykan, Betül;Muona, Mikko;Joensuu, Tarja H;Courage, Carolina;Chatron, Nicolas;Borsani, Giuseppe;Alix, Eudeline;Ramond, Francis;Touraine, Renaud;Bahlo, Melanie;Bebek, Nerses;Berkovic, Samuel F ;Lehesjoki, Anna-Elina;Lesca, Gaetan | Affiliation: | Institut NeuroMyoGène, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France Service de Neurologie, CHU de Saint-Etienne, Saint Etienne, France Centre de Recherche en Neurosciences de Lyon, 5292, Lyon, France Folkhälsan Research Center, Helsinki, Finland Medicum, University of Helsinki, Helsinki, Finland Blueprint Genetics, Helsinki, Finland Epilepsy Research Centre Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia Department of Medical Biology, the University of Melbourne, Melbourne, 3010, VIC, Australia Service de Génétique, Hospices Civils de Lyon, Lyon, France Istanbul University, Faculty of Medicine, Departments of Neurology and Clinical Neurophysiology, Istanbul University of Brescia, Brescia, Italy Service de Génétique, Hospices Civils de Lyon, Lyon, France Service de Génétique, CHU de Saint-Etienne, Saint-Etienne, France Istanbul University, Faculty of Medicine, Departments of Neurology and Clinical Neurophysiology, Istanbul |
Issue Date: | Feb-2021 | Date: | 2020-11-05 | Publication information: | Annals of Neurology 2020; 89(2): 402-407 | Abstract: | Exome sequencing was performed in two unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A>G variant affecting a splice site in SLC7A6OS. Analysis of cDNA from lymphoblastoid cells demonstrated partial splice site abolition and the creation of an abnormal isoform. RT-qPCR and western blot showed a marked reduction of protein expression. Haplotype analysis identified a ~0.85cM shared genomic region on chromosome 16q encompassing the c.191A>G variant, consistent with a distant ancestor common to both families. Our results suggest that bi-allelic loss-of-function variants in SLC7A6OS are a novel genetic cause of progressive myoclonus epilepsy. This article is protected by copyright. All rights reserved. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/25134 | DOI: | 10.1002/ana.25941 | ORCID: | 0000-0003-4580-841X 0000-0001-7691-9492 |
Journal: | Annals of Neurology | PubMed URL: | 33085104 | Type: | Journal Article | Subjects: | PME SLC7A6OS exome sequencing founder effect progressive myoclonus epilepsy |
| Appears in Collections: | Journal articles |
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