rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The severity of the CF phenotype is partly dependent on the IVS8 background on which R117H occurs; thus, it is important to be able to test clinically for both these variants.
|
11070158 |
2000 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In 2014, ivacaftor was approved in the United States as a treatment for CF subjects aged greater than 6 years old with a copy of R117H-CFTR.
|
25698453 |
2015 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations.
|
7532150 |
1995 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up.
|
23378603 |
2013 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation.
|
15997883 |
2005 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis</span> in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene.
|
17015492 |
2006 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Generally, p.Arg117His-5T patients had more severe CF disease.
|
30279124 |
2019 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T - a case report.
|
30975115 |
2019 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms.
|
31296159 |
2019 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected organs, e.g. airways, intestines and sweat glands is presently lacking.
|
21507732 |
2011 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The compound heterozygote cystic fibrosis (CF) mutation Phe508del with Arg117His-7T should not necessarily be considered benign in childhood.
|
18394117 |
2008 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The present study reports the genetic analysis of a family with different clinical forms of CF and addresses the difficulty of CF diagnosis in an individual with mutant alleles G542X and R117H because of the variable phenotype associated with R117H mutation.
|
18078365 |
2008 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T).
|
30269055 |
2019 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40.
|
26070913 |
2015 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We demonstrated that GCC agonism results in functional rescue of murine F508del/F508del and R117H/R117H Cftr and CFTR mutants in CF patient-derived intestinal spheres.
|
28978796 |
2017 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In summary, the 5T allele was not found in cis with CF-causing mutations besides R117H, but an elevated 5T allele frequency in variant CF patients suggests 5T may be associated with disease in some situations.
|
9259194 |
1997 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
|
16266832 |
2006 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We defined another group with 6 patients (18%), with normal sweat chloride levels (30-39 mmo/l) and a fourth group of 14 (41%) patients with sweat chloride below 30 mmol/l. deltaF508, the most frequent CF mutation in the Argentine population, was found on 15 of the 72 chromosomes (21%), R117H mutation was detected on 2 of 62 chromosomes (3%).
|
15239534 |
2004 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H.
|
10103316 |
1999 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.
|
7680769 |
1993 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We detected a new [R117L; L997F] CFTR complex allele in the four subjects with the highest sweat test values and CF.
|
20706124 |
2010 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed.
|
9591500 |
1998 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
One patient carried two CF mutations (deltaF508/R347H), and five were found to carry one CF mutation (four deltaF508; one R117H).
|
8659542 |
1996 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes.
|
19880712 |
2009 |