Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

ABSTRACT:

Background

Mitochondrial disorders are difficult to diagnose due to extreme genetic and phenotypic heterogeneities.

Methods

We explored the utility of targeted next-generation sequencing for the diagnosis of mitochondrial disorders in 148 patients submitted for clinical testing. A panel of 447 nuclear genes encoding mitochondrial respiratory chain complexes, and other genes inducing secondary mitochondrial dysfunction or that cause diseases which mimic mitochondrial disorders were tested.

Results

We identified variants considered to be possibly disease-causing based on family segregation data and/or variants already known to cause disease in twelve genes in thirteen patients. Rare or novel variants of unknown significance were identified in 45 additional genes for var

SUBMITTER: DaRe JT 

PROVIDER: S-EPMC3827825 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature