Targeted exome sequencing of suspected mitochondrial disorders.

ABSTRACT:

Objective

To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and genetic heterogeneity.

Methods

We considered a diverse set of 102 patients with suspected mitochondrial disorders based on clinical, biochemical, and/or molecular findings, and whose disease ranged from mild to severe, with varying age at onset. We sequenced the mitochondrial genome (mtDNA) and the exons of 1,598 nuclear-encoded genes implicated in mitochondrial biology, mitochondrial disease, or monogenic disorders with phenotypic overlap. We prioritized variants likely to underlie disease and established molecular diagnoses in accordance with current clinical genetic guidelines.

Results

Targeted exome sequencing y

SUBMITTER: Lieber DS 

PROVIDER: S-EPMC3719425 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature