ArticleMolecular genetics & genomic medicine2023
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 14 citations in OpenAlex.
- Shifting the Balance: Mitochondrial Heteroplasmy as a Driver of Cardiac Disease.Circulation research · 2026Review
- From Ophthalmoplegia to Multilevel Atrioventricular Block: Timing Cardiac Device Therapy in Kearns-Sayre Syndrome.JACC. Case reports · 2026Article
- Mitochondrial dysfunction in neurodegenerative disorders: mechanisms and therapeutic advances.Molecular biomedicine · 2026Review
- Mesenchymal Stromal Cells and Extracellular Vesicles: A Novel Therapeutic Paradigm for Mitochondrial Dysfunctions.International journal of molecular sciences · 2026Review
- Current perspectives on circadian regulation of mitochondrial dynamics in mood disorders and perioperative stress.Frontiers in pharmacology · 2026Review
- Review
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
- Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review.Frontiers in medicine · 2025Article
- Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms.Molecular neurobiology · 2024Review
- Clinical Approaches for Mitochondrial Diseases.Cells · 2023Review
- Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.Orphanet journal of rare diseases · 2023Article
- Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.Molecular genetics & genomic medicine · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is caused by spontaneous heteroplasmic single large-scale mitochondrial DNA (mtDNA) deletions. Long-range polymerase chain reaction (LR-PCR), next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) are the most widely applied methods for the identification of mtDNA deletions. Here, we report the case of 20-year-old male who presented with classic Kearns-Sayre syndrome, confirmed by novel 5,9 kb mtDNA deletion. METHODS AND
resultsLR-PCR and MLPA methods were applied to identify the mitochondrial DNA deletion for the patient, but the results were conflicting. Molecular analysis using primer walking and Sanger sequencing identified a novel 5888 base pairs mtDNA deletion (NC_012920.1:m.6069_11956del) with CAAC nucleotides repeat sequence at the breakpoints.
conclusionOur study enriched the mtDNA variation spectrum associated with KSS and demonstrated the importance of choosing relevant molecular genetic methods.
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