|
rs78655421
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes.
|
19880712 |
2009 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
|
19914443 |
2009 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The spectrum of CFTR mutations in south-west German cystic fibrosis patients.
|
1283148 |
1992 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice.
|
15246977 |
2004 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.
|
10653141 |
2000 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
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
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.
|
11737931 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
|
24440181 |
2014 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene.
|
17015492 |
2006 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular basis of hereditary pancreatitis.
|
10909845 |
2000 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Phosphatase inhibitors activate normal and defective CFTR chloride channels.
|
7522329 |
1994 |