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 |
Biomarker
|
disease |
BEFREE |
MT-ATP6 is associated with some cases of Leigh disease; clinical outcomes in our cohort ranged from death from neurodegenerative disease in early childhood to clinically and developmentally normal after several years of follow-up.
|
29307858 |
2019 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome.
|
30140060 |
2018 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.
|
29602698 |
2018 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
|
29116603 |
2018 |
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 |
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 |
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 |
CLINVAR |
mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands.
|
24002810 |
2013 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.
|
23266623 |
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 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 |
CausalMutation
|
disease |
CLINVAR |
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.
|
24118886 |
2013 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.
|
18461509 |
2007 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
|
18461509 |
2007 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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 |