24 Nuclear Genes and
Related Mitochondrial Syndromes
Genes
Diseases
BCS1L
Gracile syndrome; Leigh syndrome; Mitochondrial complex III deficiency; Bjornstad syndrome
C10ORF2
(TWINKLE/PEO1)
Autosomal dominant progressive external ophthalmoplegia with mtDNA deletions-3 (adPEO3); Mitochondrial DNA
depletion syndrome, hepatocerebral form; Sensory ataxic neuropathy, dysarthria, and opthalmoparesis (SANDO);
Infantile onset spinocerebellar ataxia
COQ2
Coenzyme Q10 deficiency with encephalomyopathy and/or nephropathy
COX10
Mitochondrial complex IV deficiency; Leigh syndrome; Progressive mitochondrial encephalopathy with proximal
renal tubulopathy
COX15
Mitochondrial complex IV deficiency; Leigh syndrome; Early-onset fatal hypertrophic cardiomyopathy
COX6B1
Mitochondrial complex IV deficiency
DGUOK
Mitochondrial DNA depletion syndrome, hepatocerebral form
DLD
Leigh syndrome; Maple syrup urine disease, type III
MPV17
Mitochondrial DNA depletion syndrome, hepatocerebral form
OPA1
Autosomal dominant optic atrophy, type 1 (OPA1);
Autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions (adPEO)
PDHA1
Pyruvate dehydrogenase deficiency; X-linked Leigh syndrome
POLG
Progressive external ophthalmoplegia with mtDNA deletions: autosomal dominant 1 (adPEO1) or recessive (arPEO);
Alpers syndrome; Spinocerebellar ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO); Mitochondrial DNA
depletion syndrome
POLG2
Progressive external ophthalmoplegia with mtDNA deletions, autosomal dominant 4 (adPEO4)
RRM2B
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy; Progressive external
ophthalmoplegia with mtDNA deletions, autosomal dominant 5 (adPEO5)
SCO1
Mitochondrial complex IV deficiency with early onset hepatic failure, and neurologic disorder
SCO2
Mitochondrial complex IV deficiency with fatal infantile cardioencephalomyopathy
SLC25A4(ANT1)
Progressive external ophthalmoplegia with mtDNA deletions, autosomal dominant 2 (adPEO2)
SUCLA2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
SUCLG1
Mitochondrial DNA depletion syndrome with lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
SURF1
Mitochondrial complex IV deficiency; Leigh syndrome
TACO1
Mitochondrial complex IV deficiency; Late-onse Leigh syndrome
TIMM8A(DDP)
Deafness-dystonia-optic neuronopathy (DDON) syndrome (aka Mohr-Tranebjaerg syndrome)
TK2
Mitochondrial DNA depletion syndrome, myopathic form
TYMP(ECGF1)
Mitochondrial neurogastrointestinal encephalopathy Syndrome (MNGIE); Mitochondrial DNA depletion syndrome
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