ArticleMolecular genetics & genomic medicine2020
Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 17 citations in OpenAlex.
- A ratiometric fluorescent reporter of mitochondrial sodium.Nature chemical biology · 2026Article
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Endocrine Dysfunction in Primary Mitochondrial Diseases.Endocrine reviews · 2025Review
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
- Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms.Molecular neurobiology · 2024Review
- Multifaceted roles of mitochondrial dysfunction in diseases: from powerhouses to saboteurs.Archives of pharmacal research · 2023Review
- Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.Molecular genetics & genomic medicine · 2023Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Clinical and genetic approach to renal hypomagnesemia.Biomedical journal · 2022Review
- Kearns-Sayre syndrome with a novel large-scale deletion: a case report.BMC ophthalmology · 2022Article
- Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.Molecular genetics & genomic medicine · 2020Article
- Mitochondrial Dynamics during Development.Newborn (Clarksville, Md.)Article
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4 authors at 1 institution in 1 country.
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Abstract
backgroundKearns-Sayre Syndrome (KSS) and Pearson Marrow-Pancreas Syndrome (PMPS) are among the classic phenotypes caused by mitochondrial DNA (mtDNA) deletions. KSS is a rare mitochondrial disease defined by a classic triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and onset before 20 years. PMPS presents in the first year of life with bone marrow failure and exocrine pancreatic dysfunction, and can evolve into KSS later in life. Even though an mtDNA deletion is the most frequent mutation in KSS and PMPS, cases of duplications and molecular rearrangements have also been described. In Colombia, few case reports of KSS and PMPS have been published in indexed journals or have been registered in scientific events.
methodsWe discuss clinical and genetic aspects of two case reports of pediatric female patients, with initial clinical diagnosis of PMPS who later evolved into KSS, with confirmatory molecular studies of an mtDNA deletion and an mtDNA duplication.
resultsA large-scale mtDNA deletion, NC_012920.1:m.8286_14416del, was confirmed by Southern Blot in patient 1. An mtDNA duplication of 7.9 kb was confirmed by MLPA in patient 2.
conclusionsOur findings are compatible with the phenotypic and genetic presentation of PMPS and KSS. We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with PMPS, who later evolved to KSS.
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