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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Eur. J. Hum. Genet.. 2018-04; 
KampsRick,SzklarczykRadek,TheunissenTom E,HellebrekersDebby M E I,SalleveltSuzanne C E H,BoestenIris B,de KoningBart,van den BoschBianca J,SalomonsGajja S,Simas-MendesMarisa,VerdijkRob,SchoonderwoerdKees,de CooIrenaeus F M,VanoevelenJo M,SmeetsHubert
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ORF cDNA Clones/MolecularCloud … the pGEM T Easy cloning system (Promega, Madison, USA). Wild-type QRSL1 was expressed using QRSL1 cDNA (NM_018292.4) pcDNA3.1_DYK clone (Genscript, Piscataway, USA). All wild-type and mutant (patient 1 cDNA … Get A Quote

摘要

This study aims to identify gene defects in pediatric cardiomyopathy and early-onset brain disease with oxidative phosphorylation (OXPHOS) deficiencies. We applied whole-exome sequencing in three patients with pediatric cardiomyopathy and early-onset brain disease with OXPHOS deficiencies. The brain pathology was studied by MRI analysis. In consanguineous patient 1, we identified a homozygous intronic variant (c.850-3A > G) in the QRSL1 gene, which was predicted to cause abnormal splicing. The variant segregated with the disease and affected the protein function, which was confirmed by complementation studies, restoring OXPHOS function only with wild-type QRSL1. Patient 2 was compound heterozygous f... More

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