{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:00:56Z","timestamp":1792886456765,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004504","name":"Lietuvos Mokslo Taryba","doi-asserted-by":"publisher","award":["TAP LLT\u201002\/2015"],"award-info":[{"award-number":["TAP LLT\u201002\/2015"]}],"id":[{"id":"10.13039\/501100004504","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Kearns\u2010Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20\u2009years 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\u2010scale mitochondrial DNA (mtDNA) deletions. Long\u2010range polymerase chain reaction (LR\u2010PCR), next generation sequencing (NGS) and multiplex ligation\u2010dependent probe amplification (MLPA) are the most widely applied methods for the identification of mtDNA deletions. Here, we report the case of 20\u2010year\u2010old male who presented with classic Kearns\u2010Sayre syndrome, confirmed by novel 5,9\u00a0kb mtDNA deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>LR\u2010PCR 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study enriched the mtDNA variation spectrum associated with KSS and demonstrated the importance of choosing relevant molecular genetic methods.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2059","type":"journal-article","created":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T07:39:50Z","timestamp":1664609990000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["<scp>Kearns\u2010Sayre<\/scp> syndrome case. Novel 5,9\u00a0kb <scp>mtDNA<\/scp> deletion"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1245-4849","authenticated-orcid":false,"given":"Kristina","family":"Grigalionien\u0117","sequence":"first","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University  Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birut\u0117","family":"Burnyt\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University  Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danut\u0117","family":"Balkelien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University  Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laima","family":"Ambrozaityt\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University  Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Algirdas","family":"Utkus","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University  Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci10110766"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa804"},{"key":"e_1_2_9_4_1","volume-title":"GeneReviews\u00ae","author":"Goldstein A.","year":"2019"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/112067219200200104"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2019.5010"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2019.11.001"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/omcr\/omw007"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.21037\/tp\u201020\u2010138"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234\u2010020\u201002501\u20100"},{"issue":"2","key":"e_1_2_9_11_1","first-page":"117","article-title":"The clinical diagnosis and molecular genetics of kearns\u2010sayre syndrome: a complex mitochondrial encephalomyopathy","volume":"4","author":"Maceluch J. 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