| Autor: |
Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Molecular genetics & genomic medicine, Hoboken : Wiley, 2023, vol. 11, no. 1, art. no. e2059, p. [1-6] |
| ISSN: |
2324-9269 |
| Popis: |
Background: Kearns- 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 con-duction anomalies. In most cases KSS is caused by spontaneous heteroplasmic single large- scale mitochondrial DNA (mtDNA) deletions. Long- range polymer-ase 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 results: LR- PCR and MLPA methods were applied to identify the mitochondrial DNA deletion for the patient, but the results were conflict-ing. 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.Conclusion: Our study enriched the mtDNA variation spectrum associated with KSS and demonstrated the importance of choosing relevant molecular genetic methods. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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