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

ABSTRACT Background Kearns–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. Methods We 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. Results A 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. Conclusions Our 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. We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with Pearson Marrow‐Pancreas Syndrome, who later evolved to Kearns‐Sayre Syndrome. The first case report is a female patient with a single‐large scale mitochondrial DNA deletion, while the second case report is a female patient with a mitochondrial DNA duplication.