|
rs11655081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003).
|
31731261 |
2019 |
|
rs1296383102
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D).
|
31679561 |
2019 |
|
rs786205675
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our study identifies sAHP as a downstream cellular target perturbed by N75K mutation in DYT2 dystonia, demonstrates its impact on neuronal excitability, and suggests a potential therapeutic strategy to efficiently treat DYT2.
|
31301343 |
2019 |
|
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 |
|
rs397514477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI.
|
30088953 |
2018 |
|
rs574658589
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia.
|
30145809 |
2018 |
|
rs35153737
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A.
|
28756192 |
2017 |
|
rs374512193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of three nucleotide variants were detected, which include a reported missense mutation (c.427 A>G; p.Met143Val) in a juvenile onset generalized dystonia patient, a novel frameshift deletion mutation (c.208-209 ΔAA; p.K70VfsX15) in a juvenile onset cervical dystonia patient and a rare variant in 3' UTR of THAP1 (c.*157 T>C) in an adult-onset blepharospasm patient.
|
27913194 |
2017 |
|
rs550921485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia).
|
28398555 |
2017 |
|
rs775863165
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia).
|
28398555 |
2017 |
|
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 |
|
rs142909469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia.
|
27477622 |
2016 |
|
rs1476648522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia.
|
27477622 |
2016 |
|
rs34015634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a missense variant, p.I2012T, in the LRRK2 gene in one sporadic patient having early-onset frontotemporal dementia with parkinsonism and dystonia.
|
27628070 |
2016 |
|
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 |
|
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 |
|
rs761104644
|
|
|
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 |
|
rs796065306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea.
|
26537056 |
2015 |
|
rs864309484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea.
|
26537056 |
2015 |
|
rs760743322
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia.
|
24930953 |
2014 |
|
rs753374463
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One subject with adult-onset generalized dystonia was found have a novel nonsense GNAL mutation (c.284C>T, p.Ser95X).
|
23759320 |
2013 |
|
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 |
|
rs146087734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A c.57C>T silent variant was found in 1 subject with segmental craniocervical dystonia.
|
20083799 |
2010 |
|
rs2032582
|
|
|
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 |