Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.

ABSTRACT:

Background

Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years 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-scale mitochondrial DNA (mtDNA) deletions. Long-range polymerase chain reaction (LR-PCR), next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) are the most widely applied methods for the identification of mtDNA deletions. Here, we report the case of 20-year-old male who presented with classic Kearns-Sayre syndrome, confirmed by novel 5,9 kb mtDNA deletion.

Methods and results

LR-PCR and MLPA methods were applied to i

SUBMITTER: Grigalioniene K 

PROVIDER: S-EPMC9834195 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature