RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Key Points

• The aim is to evaluate how RNA sequencing improves the identification of pathogenic variants in mitochondrial disease.
• Utilized RNA sequencing to analyze mitochondrial disease cases
• Compared findings with traditional DNA sequencing techniques
• Examined splicing, regulatory alterations, and NMD-escape events alongside molecular diagnostics.
• RNA-seq revealed cryptic splicing events that DNA sequencing missed
• Identified novel regulatory variants significant for accurate diagnosis
• Highlighted the importance of transcriptome data in genomic assessments for neurometabolic conditions.