|
Cystic Fibrosis
|
|
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 |
|
Pancreatic Insufficiency
|
|
0.010 |
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 |
|
Exocrine pancreatic insufficiency
|
|
0.010 |
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 |
|
Cystic Fibrosis
|
|
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 |
|
Cystic Fibrosis
|
|
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 |
|
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 |
|
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 |
|
Cystic Fibrosis
|
|
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 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
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 |
|
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 |
|
Hereditary pancreatitis
|
|
0.720 |
GeneticVariation
|
BEFREE |
However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR.
|
10653140 |
2000 |
|
Hereditary pancreatitis
|
|
0.720 |
GeneticVariation
|
BEFREE |
Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP.
|
10909845 |
2000 |
|
Lung diseases
|
|
0.040 |
GeneticVariation
|
BEFREE |
The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H.
|
11069835 |
2000 |
|
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 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
GeneticVariation
|
BEFREE |
Another source of genetic variation, responsible for mild cystic fibrosis (CF) and/or congenital bilateral absence of the vas deferens, is the mutation R117H, located in exon 4 of CFTR.
|
11070158 |
2000 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
GeneticVariation
|
BEFREE |
DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD.
|
11101688 |
2000 |
|
Aspergillosis, Allergic Bronchopulmonary
|
|
0.010 |
GeneticVariation
|
BEFREE |
Six patients with ABPA were found to be heterozygous for one CFTR mutation, including Delta F508 (n = 2), G542X (n = 1), R1162X (n = 1), 1717-1G(-)>A (n = 1), and R117H (n = 1).
|
11243954 |
2001 |
|
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 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation.
|
15997883 |
2005 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
|
16266832 |
2006 |
|
Lung diseases
|
|
0.040 |
GeneticVariation
|
BEFREE |
Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease.
|
16266832 |
2006 |
|
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 |
|
Cystic Fibrosis
|
|
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 |
|
Atypical cystic fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H.
|
18078365 |
2008 |
|
Cystic Fibrosis
|
|
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 |