What type of mutation is R117H?
R117H Mutation: The R117H mutation is generally considered to be a mild CF (class IV) mutation. When combined with another CF-causing variant it is associated with a broad phenotype, ranging from CF with suppurative lung disease, to no clinical disease.
What is F508del mutation?
The mutation F508del is the commonest cause of the genetic disease cystic fibrosis (CF). CF disrupts the function of many organs in the body, most notably the lungs, by perturbing salt and water transport across epithelial surfaces.
What is 5T variant?
The 5T variant is a common mild variant occurring in one in ten individuals in the general population. 3 It causes abnormal splicing of the CFTR gene transcript, resulting in a 90% reduction of functional CFTR protein.
Where is the F508del mutation?
Description of F508del Mutation F508del is the most common mutation that results in CF; it is characterized as a class II defect. Class II defects are among those associated with more severe manifestations of CF, and they result in complete loss of chloride channel function.
What is W1282X?
W1282X is a common nonsense mutation among cystic fibrosis patients that results in the production of a truncated Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel.
What is the R117H mutation in cystic fibrosis?
High Frequency of the R117H Cystic Fibrosis Mutation in Patients with Congenital Absence of the Vas Deferens. To the Editor: We have previously described an increased frequency of the δF 508 mutation of the cystic fibrosis gene in a group of patients with congenital absence of the vas deferens 1.
How many patients are compound heterozygotes with R117H mutation?
We found that four patients were compound heterozygotes, all having an R117H mutation in exon 4 . . . Print Subscriber? Activate your online access.
Can the Δf 508 mutation of the cystic fibrosis gene have another allele?
To the Editor: We have previously described an increased frequency of the δF 508 mutation of the cystic fibrosis gene in a group of patients with congenital absence of the vas deferens 1. This suggested that patients heterozygous for the δF 508 mutation may have a mutation on another allele.
Are there other mutations of the cystic fibrosis gene?
We have looked for other mutations of the cystic fibrosis gene in a group of 23 patients with congenital absence of the vas deferens, 11 of whom were heterozygous for the δF 508 mutation. We found that four patients were compound heterozygotes, all having an R117H mutation in exon 4 . . .