Key result
In a cohort of children with Kearns-Sayre syndrome, heteroplasmy rates and the extension and location of sporadic mtDNA deletions did not correlate with age at onset or severity of conduction defects.
In children with Kearns-Sayre syndrome, the severity of cardiac conduction defects and age of onset do not correlate with heteroplasmy rates or mtDNA deletion characteristics.
We thank Dr Finsterer for his interest1 in our paper2 and we are glad to provide a point-by-point reply to his objections. As correctly reported, single mtDNA deletions responsible for Kearns-Sayre syndrome (KSS) are usually sporadic events, and mothers, siblings, and patients’ offspring are unaffected. All our children presented a sporadic mtDNA deletions and their mothers did not show mtDNA deletions or clinical expressions suggesting a mitochondrial disease, including cardiac arrhythmias. For what concerns genotype–phenotype correlation, in our cohort, heteroplasmy rates and the extension and location of the mtDNA deletion did not correlate with the age at onset and the severity of cardiac conduction defects. In...
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Mambro et al. (2021) conducted a letter in Kearns-Sayre syndrome. In a cohort of children with Kearns-Sayre syndrome, heteroplasmy rates and the extension and location of sporadic mtDNA deletions did not correlate with age at onset or severity of conduction defects.
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