Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

the SYNaPS Study Group, Queen Square Genomics

Research output: Contribution to journalArticlepeer-review

Abstract

A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift towards early clinical whole exome sequencing (WES). Adult primary mitochondrial diseases (PMDs) frequently exhibit neurological manifestations that overlap with other nervous system disorders. However, mitochondrial DNA (mtDNA) is not routinely analyzed in standard clinical WES bioinformatic pipelines. We reanalyzed 11,424 exomes, enriched with neurological diseases, for pathogenic mtDNA variants. Twenty-four different mtDNA mutations were detected in 64 exomes, 11 of which were considered disease causing based on the associated clinical phenotypes. These findings highlight the diagnostic uplifts gained by analyzing mtDNA from WES data in neurological diseases. ANN NEUROL 2021;89:1240–1247.

Original languageEnglish (US)
Pages (from-to)1240-1247
Number of pages8
JournalAnnals of Neurology
Volume89
Issue number6
DOIs
StatePublished - Jun 2021
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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