| Literature DB >> 28216230 |
Mariella T Simon1, Bobby G Ng2, Marisa W Friederich3, Raymond Y Wang4, Monica Boyer5, Martin Kircher6, Renata Collard3, Kati J Buckingham7, Richard Chang4, Jay Shendure8, Deborah A Nickerson6, Michael J Bamshad9, Johan L K Van Hove3, Hudson H Freeze2, Jose E Abdenur10.
Abstract
We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms were suggestive of a type I congenital disorder of glycosylation (CDG). While exome sequencing was negative for CDG related candidate genes, the testing revealed compound heterozygous mutations in the mitochondrial elongation factor G gene (GFM1). One of the mutations had been reported previously while the second, novel variant was found deep in intron 6, activating a cryptic splice site. Functional studies demonstrated decreased GFM1 protein levels, suggested disrupted assembly of mitochondrial complexes III and V and decreased activities of mitochondrial complexes I and IV, all indicating combined OXPHOS deficiency.Entities:
Keywords: Congenital disorders of glycosylation; Cryptic splice site; GFM1; Mitochondrial disease; Mitochondrial elongation factor
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Year: 2017 PMID： 28216230 PMCID： PMC5444868 DOI： 10.1016/j.mito.2017.02.004
Source DB: PubMed Journal: Mitochondrion ISSN： 1567-7249 Impact factor: 4.160