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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of
the exome and mitochondrial genome
#MMPMID23631824
Dinwiddie DL
; Smith LD
; Miller NA
; Atherton AM
; Farrow EG
; Strenk ME
; Soden SE
; Saunders CJ
; Kingsmore SF
Genomics
2013[Sep]; 102
(3
): 148-56
PMID23631824
show ga
Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus
and allelic heterogeneity, with both nuclear and mitochondrial genomes
potentially liable. Using exome sequencing we demonstrate the ability to rapidly
and cost effectively evaluate both the nuclear and mitochondrial genomes to
obtain a molecular diagnosis for four patients with three distinct mitochondrial
disorders. One patient was found to have Leigh syndrome due to a mutation in
MT-ATP6, two affected siblings were discovered to be compound heterozygous for
mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency,
and one patient was found to have coenzyme Q10 deficiency due to compound
heterozygous mutations in COQ2. In all cases conventional diagnostic testing
failed to identify a molecular diagnosis. We suggest that additional studies
should be conducted to evaluate exome sequencing as a primary diagnostic test for
mitochondrial diseases, including those due to mtDNA mutations.
|*Exome
[MESH]
|*Genome, Mitochondrial
[MESH]
|*Sequence Analysis, RNA
[MESH]
|Ataxia/diagnosis/genetics
[MESH]
|Child, Preschool
[MESH]
|Electron Transport Complex I/deficiency/genetics
[MESH]
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