ArticleMolecular genetics and metabolism reports2018
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.Journal of neuromuscular diseases · 2026Pooled it
- Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.BMJ (Clinical research ed.) · 2021Trial
- Advances in Primary Mitochondrial Diseases: Diagnosis, Natural History Studies and Clinical Trials.Genes · 2026Review
- International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.Orphanet journal of rare diseases · 2024Article
- Article
- Structures of the mitochondrial single-stranded DNA binding protein with DNA and DNA polymerase γ.Nucleic acids research · 2024Article
- Mitochondrial haplogroup R offers protection against obesity in Kuwaiti and Qatari populations.Frontiers in endocrinology · 2024Article
- Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.Journal of neuromuscular diseases · 2024Article
- Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.Orphanet journal of rare diseases · 2023Article
- Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.Scientific reports · 2023Article
- Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.Frontiers in genetics · 2023Article
- The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.JIMD reports · 2022Article
- Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.Molecular genetics & genomic medicine · 2022Article
- Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.Current issues in molecular biology · 2022Review
- Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Genome medicine · 2021Article
- Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.International journal of molecular sciences · 2021Article
- International retrospective natural history study ofBrain communications · 2021Article
- Article
- Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.Diagnostics (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveReaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome sequencing (WES) for diagnosing patients with a clinical suspicion of an MD is effective (39-60%). We aimed to study the effectiveness of WES in clinical practice in Estonia, in patients with an unsolved, but suspected MD. We also show our first results of mtDNA analysis obtained from standard WES reads.
methodsRetrospective cases were selected from a database of 181 patients whose fibroblast cell cultures had been stored from 2003 to 2013. Prospective cases were selected during the period of 2014-2016 from patients referred to a clinical geneticist in whom an MD was suspected. We scored each patient according to the mitochondrial disease criteria (MDC) (Morava et al., 2006) after re-evaluation of their clinical data, and then performed WES analysis.
resultsA total of 28 patients were selected to the study group. A disease-causing variant was found in 16 patients (57%) using WES. An MD was diagnosed in four patients (14%), with variants in the
conclusionsThe 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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