|
rs1177373525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel homozygous p.M797I POLG mutation is responsible for MNGIE combined to optic atrophy and mtDNA depletion in the two patients.
|
30395865 |
2019 |
|
rs397514477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes.
|
30088953 |
2018 |
|
rs1231502335
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also identified a novel mutation causing optic atrophy and deafness (c.892A>G (p.Ser298Gly)).
|
27858935 |
2017 |
|
rs746681765
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While the previously reported variant p.Arg340Cys seems to be consistently associated with the same clinical features such as childhood onset, optic atrophy, gait and speech difficulties, and wasting of the lower limbs, the patient with the novel mutation p.Trp160Ser did not present with optic atrophy and his ocular abnormalities were limited to nystagmus and saccadic pursuit.
|
28558379 |
2017 |
|
rs587777175
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The second carried the same homozygous c.316C>T (p.R106C) variant previously reported and displayed a similarly complex phenotype including optic atrophy.
|
27492651 |
2016 |
|
rs201754030
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The same p.Q286X variant was found as compound heterozygous with a splice site change in a patient from a second family, with juvenile-onset optic atrophy, peripheral neuropathy, and ataxia.
|
25037205 |
2014 |
|
rs104894270
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency.
|
24028823 |
2013 |
|
rs28939714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency.
|
24028823 |
2013 |
|
rs2157719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both NPG loci were also nominally associated with a second type of glaucoma, exfoliation syndrome glaucoma (rs2157719 [G], OR = 0.59 [95% CI 0.41-0.87], p = 0.004 and rs284489 [G], OR = 0.76 [95% CI 0.54-1.06], p = 0.021), suggesting that these loci might contribute more generally to optic nerve degeneration in glaucoma.
|
22570617 |
2012 |
|
rs284489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both NPG loci were also nominally associated with a second type of glaucoma, exfoliation syndrome glaucoma (rs2157719 [G], OR = 0.59 [95% CI 0.41-0.87], p = 0.004 and rs284489 [G], OR = 0.76 [95% CI 0.54-1.06], p = 0.021), suggesting that these loci might contribute more generally to optic nerve degeneration in glaucoma.
|
22570617 |
2012 |
|
rs151103940
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An OPA1 missense mutation, c.239A→G (p.Y80C), was identified in an 11-year-old black girl with optic atrophy and peripheral sensorimotor neuropathy in her lower limbs.
|
21036400 |
2011 |
|
rs80356524
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, overexpression of a familial OPA3 mutant (G93S) induced mitochondrial fragmentation and spontaneous apoptosis, suggesting that OPA3 mutations may cause optic atrophy via a gain-of-function mechanism.
|
20372962 |
2010 |
|
rs74315205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This pedigree, in which the proband had non-insulin-dependent diabetes mellitus and congenital hearing impairment and his mother a triple combination of diabetes mellitus, hearing impairment and optic atrophy, was found to be associated with autosomal dominant transmission of the E864K mutation of the WFS1 gene.
|
18544103 |
2008 |
|
rs104893753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations (Glu347Stop and Arg366Stop) of the OPA1 gene are involved in the pathogenesis of bilateral optic atrophy in Japanese patients.
|
12842213 |
2003 |
|
rs119103265
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene.
|
21707411 |
2011 |
|
rs387906930
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Among these families, we found three heterozygous missense mutations in WFS1 segregating with OA and SNHL: p.A684V (six families), and two novel mutations, p.G780S and p.D797Y, all involving evolutionarily conserved amino acids and absent from 298 control chromosomes.
|
21538838 |
2011 |
|
rs387906930
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Their father has congenital sensorineural hearing loss and developed optic atrophy.He is heterozygous for A684V in WFS1.
|
21067485 |
2010 |
|
rs119103265
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy.
|
16835246 |
2006 |
|
rs80356529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In contrast, the association of autosomal dominant OA and SNHL without other phenotypic abnormalities is rare, and almost exclusively attributed to mutations in the Optic Atrophy-1 gene (OPA1), most commonly the p.R445H mutation.
|
21538838 |
2011 |
|
rs80356529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
|
16240368 |
2005 |
|
rs80356529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
One patient with optic atrophy had a heterozygous Arg445His mutation in the OPA1 gene.
|
12566046 |
2003 |
|
rs1555817157
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
|
29571850 |
2018 |
|
rs779027563
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
rs1057517686
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
|
rs374997012
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
|
27551684 |
2016 |