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,Molecular Genetics & Genomic Medicine

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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
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-08 , DOI: 10.1002/mgg3.1509
Vanessa Sabella‐Jiménez ₁ , Carlos Otero‐Herrera ₁ , Carlos Silvera‐Redondo ₂ , Pilar Garavito‐Galofre ₂

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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.

中文翻译：

Kearns-Sayre综合征（KSS）的线粒体DNA缺失和复制，最初表现为Pearson骨髓-胰腺综合征（PMPS）：哥伦比亚Barranquilla的两个病例报告

Kearns-Sayre综合征（KSS）和Pearson骨髓-胰腺综合征（PMPS）是线粒体DNA（mtDNA）缺失引起的经典表型。KSS是一种罕见的线粒体疾病，由典型的进行性外眼肌麻痹，非典型性色素性视网膜病变和在20年之前发作的三联征定义。PMPS在生命的第一年出现骨髓衰竭和外分泌胰腺功能障碍，并可能在生命后期发展为KSS。即使mtDNA缺失是KSS和PMPS中最常见的突变，但也有重复和分子重排的案例。在哥伦比亚，很少有KSS和PMPS的病例报告在索引期刊上发表或在科学活动中进行注册。

更新日期：2020-11-16

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