What is R117H mutation?

What is R117H mutation?

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 most common CF mutation, F508del, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein. Without this building block, the CFTR protein cannot stay in the correct 3-D shape.

What is G542X mutation?

Mice homozygous for the G542X mutation have reduced Cftr expression and absence of CFTR function in the airway and intestine. These mice display typical cystic fibrosis manifestations such as poor growth and reduced survival due to intestinal obstruction.

What type of mutation is the A455E mutation?

Conclusions. A455E is a common mutation causing cystic fibrosis in the Netherlands. Although several mutations are known to be associated with less severe pancreatic disease, our findings demonstrate a correlation between the A455E mutation and mild pulmonary disease.

What is the disease penetrance of cystic fibrosis?

The penetrance of classical CF for [R117H;T7]+[F508del] was estimated at 0.03% and that of severe CF in adulthood at 0.06%. Conclusions: These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes.

What is CFTR 5T?

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.

How does a missense mutation affect the protein?

A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. This amino acid substitution may have no effect, or it may render the protein nonfunctional.

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 a stop mutation?

A nonsense mutation, or its synonym, a stop mutation, is a change in DNA that causes a protein to terminate or end its translation earlier than expected.

What is the R334W mutation?

Abstract. Introdution: R334W is a poorly described mutation responsible for less severe forms of Cystic Fibrosis,compared to ΔF508. In small cohorts,R334W patients’ age at diagnosis was reported as higher and pancreatic insufficiency as less extent, but data on the impact of this mutation is lacking.

What is disease penetrance?

Penetrance refers to the proportion of people with a particular genetic variant (or gene mutation) who exhibit signs and symptoms of a genetic disorder. If some people with the variant do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance.