|
rs6277
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The allele frequencies of DRD2 C957T were not significantly different between the CWS and the CWNS; however, the frequency of the TT genotype was significantly higher among the CWS (p = 0.02), which was associated with 2.25-fold susceptibility to stuttering (OR = 2.25, 95% CI = 1.03 to 4.90, p = 0.04).
|
30199750 |
2019 |
|
rs6277
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This idea is supported by an additional path model showing that the polymorphism DRD2 C957T influences the self-reported severity of stuttering mainly by its influence on neuroticism (independent of the variable sex).
|
22262089 |
2012 |
|
rs556450190
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering.
|
26544806 |
2015 |
|
rs760021635
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering.
|
26544806 |
2015 |
|
rs63751243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism.
|
18442119 |
2008 |
|
rs58898021
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the A357P mutation distorts a unique stutter sequence that is considered to be critically important for proper filament assembly.
|
12766977 |
2003 |
|
rs121912476
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified the first case of both compound heterozygous dominant (E170K) and recessive (E418K) mutations in any keratin gene and confirmed the significant involvement of the stutter region in the assembly and organization of the keratin intermediate filament network in vitro.
|
11973334 |
2002 |
|
rs59115483
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesized that this mutated stutter allele was clinically silent when combined with the wild type allele but aggravates the clinical severity of EBS caused by the E170K mutation on the other allele.
|
11973334 |
2002 |
|
rs762040846
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesized that this mutated stutter allele was clinically silent when combined with the wild type allele but aggravates the clinical severity of EBS caused by the E170K mutation on the other allele.
|
11973334 |
2002 |