3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome

Klopstock, Thomas; Bischof, F.; Gerok, K.; Deuschl, Günther; Seibel, Peter; Ketelsen, Uwe‐Peter; Reichmann, Heinz

doi:10.1007/bf00294310

Cited by 4 publications

(3 citation statements)

References 19 publications

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“…In previously reported cases, several kinds of mtDNA deletions, ranging from 1.3 to 9.8 kb, were found in KSS patients (Klopstock et al, 1995;Pitceathly et al, 2011;Dominic et al, 2014;Kabunga et al, 2015;Maeda et al, 2016). Interestingly, the clinical symptoms and genetic mechanisms are distinct among these populations.…”

Section: Fig 7 Localization Of the Novel Deletion And Known Common mentioning

confidence: 85%

“…There were no signs of cardiac dysfunction. The 3.1 kb-deletion covered MT-ND4 (ND4), MT-ND5 (ND5), MT-ND6 (ND6), as well as tRNA His , tRNA Ser(AGY) and tRNA Leu(CUN) (Klopstock et al, 1995). Thus, analysis mtDNA deletion in additional populations is still important to broaden the mutational spectrum of KSS disease and is helpful to understand the connection between mtDNA deletion and clinical symptoms.…”

Section: Fig 7 Localization Of the Novel Deletion And Known Common mentioning

confidence: 99%

“…Moreover, several uncommon mtDNA deletions were also reported. In 1995, a 3.1 kb mtDNA deletion (11,368) was found in the muscle of a German patient with KSS (Klopstock et al, 1995). Sokolova et al (2002) identified a heteroplasmic 5.5 kb deletion, encompassing nucleotides 8278-13,770 of the mtDNA, in a KSS patient from a Russian family.…”

Section: Introductionmentioning

confidence: 99%

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Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns–Sayre Syndrome

Guo

Wang

2020

DNA and Cell Biology

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Kearns-Sayre Syndrome (KSS) is a severe mitochondrial disorder involving the central nervous system, eyes, ears, skeletal muscles, and heart. The mitochondrial DNA (mtDNA) rearrangements, especially the deletions, are present in almost all KSS patients and considered as the disease-causing factor. However, the size and position of mtDNA deletions are distinct in different individuals. In this study, we report the case of a pair of Chinese twins with KSS. The twin patients revealed typical KSS clinical symptoms, including heart block, bilateral sensorineural hearing loss, progressive external ophthalmoplegia, exercise intolerance, proximal limb weakness, and endocrine disorders. Using long-range polymerase chain reactions (long-range PCR) and nextgeneration sequencing (NGS), the genetic features of the twin patients were investigated. A large 6600 bp mtDNA deletion, ranging from position 8702 to 15,302, was detected in both patients. To our knowledge, this kind of mtDNA deletion has never been described previously. Our study enriched the mutation spectrum of KSS and showed that NGS is a powerful tool for detecting mtDNA large variants.

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Section: Fig 7 Localization Of the Novel Deletion And Known Common mentioning

confidence: 85%

Section: Fig 7 Localization Of the Novel Deletion And Known Common mentioning

confidence: 99%

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Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns–Sayre Syndrome

Guo

Wang

2020

DNA and Cell Biology

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Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

Melberg

Holme

et al. 1996

Annals of Neurology

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Sporadic progressive external ophthalmoplegia and Kearns-Sayre syndrome are usually associated with single large-scale mitochondrial DNA deletions in muscle. In progressive external ophthalmoplegia with autosomal dominant inheritance, multiple mitochondrial DNA deletions have been reported. We studied several members of a Swedish family with autosomal dominant progressive external ophthalmoplegia and multiple mitochondrial DNA deletions by polymerase chain reaction analysis of single muscle fibers and by in situ hybridization, combined with enzyme histochemical analysis. Muscle fiber segments with deficiency of cytochrome c oxidase, which is partially encoded by mitochondrial DNA, had accumulated mitochondrial DNA with deletions and showed reduced levels of wild-type mitochondrial DNA. The deletions varied between individual muscle fibers. There was one predominant deletion in each cytochrome c oxidase-deficient muscle fiber segment. Sequencing of the deletion breakpoints showed that most but not all of the deletions were flanked by direct repeats. Young, clinically affected individuals of this family without limb muscle symptoms did not show mitochondrial DNA deletions or cytochrome c oxidase-deficient muscle fibers. Our results indicate that a nuclear factor predisposes to the development of somatic multiple mitochondrial DNA deletions. Mitochondrial DNA with multiple different deletions shows clonal expansion, which leads to mitochondrial myopathy with ragged-red fibers and muscle weakness.

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Kearns-Sayre Syndrome

2005

Magnetic Resonance of Myelination and Myelin Disorders

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3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome

Cited by 4 publications

References 19 publications

Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns–Sayre Syndrome

Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns–Sayre Syndrome

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

Kearns-Sayre Syndrome

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