Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation.
|
24153443 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy.
|
17352390 |
2007 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
|
8078883 |
1994 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome.
|
9511882 |
1998 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The rare T8993C mutation in the MT-ATP6 gene is generally considered to be clinically milder, but there is marked clinical heterogeneity ranging from asymptomatic carriers to fatal infantile Leigh syndrome.
|
22819295 |
2012 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.
|
16217706 |
2005 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands.
|
24002810 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C.
|
22789932 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Leigh syndrome was subsequently confirmed by genetic study which showed a novel mutation at 8597T>C of the mitochondrial ATPase6 gene.
|
22348497 |
2012 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The m.9185 T > C variant in MT-ATP6 has been reported to cause various neurological disorders including late-onset Leigh syndrome (LS).
|
31500933 |
2020 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON).
|
23266623 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.
|
23206802 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a new case of Leigh disease (subacute necrotizing encephalomyelopathy) in a girl with mitochondrial DNA (mtDNA) mutation in the ATPase6 gene at nucleotide position 8993.
|
8750605 |
1995 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in MT-ATP6 are associated with the Leigh syndrome, the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP), as well as with non-classical phenotypes, while MT-ATP8 is less frequently mutated in patients with mitochondrial disease.
|
27502083 |
2016 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.
|
16217706 |
2005 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The first patient with a limb-girdle-type myopathy carried an A3302G substitution in the tRNA(Leu(UUR)) gene (70% heteroplasmy), the second patient with mitochondrial myopathy and cardiomyopathy carried a T3271C mutation in the tRNA(Leu(UUR)) gene (80% heteroplasmy) and the third patient with Leigh syndrome carried a T9176C mutation in the ATPase6 gene (93% heteroplasmy).
|
11024191 |
2000 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The result of mutational analysis revealed the absence of mitochondrial mutations in MT-ATP6 gene and the presence of a known homozygous splice site mutation c.516-517delAG in sibling patients added to the presence of a novel double het mutations in LS patient (c.752-18 A > C/c. c.751 + 16G > A).
|
29481804 |
2018 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human mitochondrial ATP6 gene encoding ATP synthase subunit a/6 (referred to as Atp6p in yeast) are at the base of neurodegenerative disorders like Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot-Marie-Tooth (CMT), and ataxia telangiectasia.
|
24316278 |
2014 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C.
|
20546952 |
2010 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we report an atypical case of LS in a 9-year-old boy associated with a novel variation in MT-ATP6 gene.
|
29929013 |
2019 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.
|
9270604 |
1997 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the mitochondrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in childhood.
|
22577227 |
2012 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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.
|
23631824 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |