Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8390575 | Molecular Genetics and Metabolism Reports | 2018 | 10 Pages |
Abstract
The diagnostic yield of WES in our cohort was 57%, proving to be a very good effectiveness. However, MDs were found in only 14% of the patients. We suggest WES analysis as a first-tier method in clinical genetic practice for children with any multisystem, neurological, and/or neuromuscular problem, as nuclear DNA variants are more common in children with MDs; a large number of patients harbor disease-causing variants in genes other than the mitochondria-related ones, and the clinical presentation might not always point towards an MD. We have also successfully conducted analysis of mtDNA from standard WES reads, providing further evidence that this method could be routinely used in the future.
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Authors
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ãlle Murumets, Eve Ãiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Ãunap,