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Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease

2024-05-03 neurology Title + abstract only
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BackgroundPRKN biallelic pathogenic variants are the most common cause of autosomal recessive early-onset Parkinsons disease (PD). However, the variants responsible for suspected PRKN-PD individuals are not always identified with standard genetic testing. ObjectivesIdentify the genetic cause in two siblings with a PRKN-PD phenotype using long-read sequencing (LRS). MethodsThe genetic investigation involved standard testing using successively multiple ligation probe amplification (MLPA), Sanger...

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