| Title |
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion |
| Authors |
Grigalionienė, Kristina ; Burnytė, Birutė ; Balkelienė, Danutė ; Ambrozaitytė, Laima ; Utkus, Algirdas |
| DOI |
10.1002/mgg3.2059 |
| Full Text |
|
| Is Part of |
Molecular genetics & genomic medicine.. Hoboken : Wiley. 2023, vol. 11, no. 1, art. no. e2059, p. [1-6].. ISSN 2324-9269 |
| Keywords [eng] |
Kearns-Sayre syndrome ; KSS ; mitochondrial disorder ; single large-scale mitochondrial DNA deletion syndromes |
| Abstract [eng] |
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. |
| Published |
Hoboken : Wiley |
| Type |
Journal article |
| Language |
English |
| Publication date |
2023 |
| CC license |
|
