Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
Abstract 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 conduction anomalies. In most cases KSS is caused by spont...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2059 |
| _version_ | 1797955487347507200 |
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| author | Kristina Grigalionienė Birutė Burnytė Danutė Balkelienė Laima Ambrozaitytė Algirdas Utkus |
| author_facet | Kristina Grigalionienė Birutė Burnytė Danutė Balkelienė Laima Ambrozaitytė Algirdas Utkus |
| author_sort | Kristina Grigalionienė |
| collection | DOAJ |
| description | Abstract 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 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 results LR‐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. Conclusion Our study enriched the mtDNA variation spectrum associated with KSS and demonstrated the importance of choosing relevant molecular genetic methods. |
| first_indexed | 2024-04-10T23:33:55Z |
| format | Article |
| id | doaj.art-5b144b7492a24501b535e885d1c7a127 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-10T23:33:55Z |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-5b144b7492a24501b535e885d1c7a1272023-01-12T04:03:44ZengWileyMolecular Genetics & Genomic Medicine2324-92692023-01-01111n/an/a10.1002/mgg3.2059Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletionKristina Grigalionienė0Birutė Burnytė1Danutė Balkelienė2Laima Ambrozaitytė3Algirdas Utkus4Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University Vilnius LithuaniaDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University Vilnius LithuaniaDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University Vilnius LithuaniaDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University Vilnius LithuaniaDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University Vilnius LithuaniaAbstract 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 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 results LR‐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. Conclusion Our study enriched the mtDNA variation spectrum associated with KSS and demonstrated the importance of choosing relevant molecular genetic methods.https://doi.org/10.1002/mgg3.2059Kearns‐Sayre syndromeKSSmitochondrial disordersingle large‐scale mitochondrial DNA deletion syndromes |
| spellingShingle | Kristina Grigalionienė Birutė Burnytė Danutė Balkelienė Laima Ambrozaitytė Algirdas Utkus Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion Molecular Genetics & Genomic Medicine Kearns‐Sayre syndrome KSS mitochondrial disorder single large‐scale mitochondrial DNA deletion syndromes |
| title | Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion |
| title_full | Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion |
| title_fullStr | Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion |
| title_full_unstemmed | Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion |
| title_short | Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion |
| title_sort | kearns sayre syndrome case novel 5 9 kb mtdna deletion |
| topic | Kearns‐Sayre syndrome KSS mitochondrial disorder single large‐scale mitochondrial DNA deletion syndromes |
| url | https://doi.org/10.1002/mgg3.2059 |
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