Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

doi:10.1186/1471-2350-14-83

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Article

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

BMC medical genetics - 16 Aug 2013

Craigen William J, Graham Brett H, Wong Lee-Jun, Scaglia Fernando, Lewis Richard Alan, Bonnen Penelope E

Abstract excerpt

BACKGROUND: The clinical features of mitochondrial disease are complex and highly variable, leading to challenges in establishing a specific diagnosis. Despite being one of the most commonly occurring inherited genetic diseases with an incidence of 1/5000, ~90% of these complex patients remain without a DNA-based diagnosis. We report our efforts to identify the pathogenetic cause for a patient with typical...

Topics

Adult
Computational Biology
DNA Helicases
Exome
Genetic Diseases, X-Linked
Genetic Loci
Homozygote
Humans
Male
Mitochondrial Diseases
Multifunctional Enzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Nephrolithiasis

Oculocerebrorenal Syndrome

Pedigree

Phenotype

Phosphoric Monoester Hydrolases

RNA Helicases

Source

Open in PubMed Open full text

Identifiers

PMID: 23947751
DOI: 10.1186/1471-2350-14-83
PMCID: PMC3751849

Genes

OCRL
SETX

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