Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2). Issue 2 (February 2015)

• Record Type: Journal Article
• Authors: Vanlander, Arnaud V.; Menten, Björn; Smet, Joél; De Meirleir, Linda; Sante, Tom; De Paepe, Boel; Seneca, Sara; Pearce, Sarah F.; Powell, Christopher A.; Vergult, Sarah; Michotte, Alex; De Latter, Elien; Vantomme, Lies; Minczuk, Michal; Van Coster, Rudy
• Is Part Of: Human mutation. Volume 36:Issue 2(2015:Feb.)
• Page Start: 222
• Page End: 231
• Publication Date: 2015-02
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22728
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22728-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Pathogenic variants in mitochondrial aminoacyl‐tRNA synthetases are an emerging group of causative molecular defects for individuals presenting a combined OXPHOS deficiency. This paper presents two siblings with a pathogenic splice site mutation in the asparaginyl tRNA synthetase (<italic>NARS2</italic>) and describes the functional and biochemical consequences of this mutation. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh3r5jm7gz" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>