|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The child was found to have a variant in the MT-ND6 gene (m.14484T>C), most commonly associated with Leber hereditary optic neuropathy, despite a phenotype more closely resembling Leigh syndrome.
|
31129100 |
2019 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I.
|
29444077 |
2018 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother.
|
28944608 |
2017 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m.8344A>G mutation in MT-TK gene, related MERRF (myoclonic epilepsy with ragged-red fibre) phenotype and m.14484T>C mutation in the MT-ND6 gene responsible for Leber hereditary optic neuropathy phenotype.
|
28630220 |
2017 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this study, we demonstrated that the LHON susceptibility allele (m.14502T > C, p. 58I > V) in the ND6 gene modulated the phenotypic expression of primary LHON-associated m.11778G > A mutation.
|
27427386 |
2016 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These include the severe mutation in the tRNALys gene, m.8363G>A, and the three milder yet prevalent Leber's hereditary optic neuropathy (LHON) mutations in the MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A) and MT-ND6 (m.14484T>C) mitochondrial genes.
|
25909222 |
2015 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These data further support that the ND6 gene is the hot spot for mutations associated with LHON.
|
24398099 |
2014 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
Biomarker
|
disease |
CTD_human |
Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy.
|
24569607 |
2014 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mitochondrial m.14484T>C (MT-ND6) mutation has been associated with Leber's hereditary optic neuropathy.
|
23665487 |
2013 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Sixteen mitochondrial genomes were found to harbor at least one of the following nine rare LHON pathogenic mutations in genes MT-ND1 (m.3700G>A/p.A132T, m.3733G>A-C/p.E143K-Q, m.4171C>A/p.L289M), MT-ND4L (m.10663T>C/p.V65A) and MT-ND6 (m.14459G>A/p.A72V, m.14495A>G/p.M64I, m.14482C>A/p.L60S, and m.14568C>T/p.G36S).
|
22879922 |
2012 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
Biomarker
|
disease |
MGD |
Mouse mtDNA mutant model of Leber hereditary optic neuropathy.
|
23129651 |
2012 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.
|
18440284 |
2008 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The nucleotide G14459A mutation occurs in NADH dehydrogenase subunit 6, and has been suggested previously as the disease-causing mutation in Hispanic, African-American and Caucasian families of Leber's hereditary optic neuropathy (LHON) and/or dystonia.
|
16380132 |
2006 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.
|
15922297 |
2005 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Leber hereditary optic neuropathy (LHON)/pediatric onset dystonia is associated with a G to A transition at nucleotide position (np) 14459, within the mitochondrial DNA (mtDNA)-encoded ND6 gene.
|
14735585 |
2004 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
Biomarker
|
disease |
CTD_human |
Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.
|
15342361 |
2004 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It is the seventh mutation in the ND6 gene leading to LHON.
|
12324878 |
2002 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy.
|
11931086 |
2002 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
|
12112086 |
2002 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations.
|
11133798 |
2001 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations.
|
11133798 |
2001 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
|
10447650 |
1999 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene.
|
10447650 |
1999 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
|
9452107 |
1998 |
|
Optic Atrophy, Hereditary, Leber
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The 14484 mutation in the ND6 gene of mitochondrial DNA (mtDNA) is a genetic mutation associated with Leber's hereditary optic neuropathy (LHON) in Caucasian patients who show a high incidence of visual recovery.
|
9176781 |
1997 |