|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Marginal associations with akathisia (p=0.039 and p=0.042, respectively) and dystonia (p=0.013 and p=0.034, respectively) were observed for both G2677T/A and C3435T genotypes.
|
20060871 |
2010 |
|
rs104893665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
|
11443547 |
2001 |
|
rs104893665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
|
21431957 |
2011 |
|
rs104893665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Very early pattern of movement disorders in sepiapterin reductase deficiency.
|
24212389 |
2013 |
|
rs104893665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Whole-genome sequencing for optimized patient management.
|
21677200 |
2011 |
|
rs104893665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
|
23430877 |
2012 |
|
rs104893877
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After the administration of apomorphine, A53T-transgenic mice showed more severe stereotypic and dystonic movements in comparison with wild-type controls.
|
25307288 |
2015 |
|
rs104894003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood.
|
29788902 |
2018 |
|
rs104894442
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient.
|
10987649 |
1999 |
|
rs1057518942
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057519279
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred.
|
27839873 |
2016 |
|
rs1057519281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred.
|
27839873 |
2016 |
|
rs1085307993
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1114167290
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131692231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs113371321
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1135401746
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs113994063
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs114925667
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs11655081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003).
|
31731261 |
2019 |
|
rs1182
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele.
|
19202559 |
2009 |
|
rs1182
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003).
|
25203860 |
2015 |
|
rs121434410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT.
|
26231208 |
2015 |
|
rs121908683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the segregation of R632W with disease in an Iranian consanguineous dystonia-parkinsonism pedigree.
|
19087156 |
2009 |
|
rs121917747
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
|
16917893 |
2006 |