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My infant of a week old has DeltaF508 and 3849+ 10KBC>t
- Thread starter anonymous
- Start date
Andrea,Nope, there is no list of that sort, but if you search long enough you can usually find what kind of disease is normally associated with each mutation. http://www.genet.sickkids.on.ca/cftr/fig3.html has a few listed as I am sure you have seen. I would recommend doing a search for the mutation in yahoo and google and reading each result, at some point you should find some info about it.Also try searching http://www.genet.sickkids.on.ca/cftr/ for the mutation.Good Luck!Franky
Before people go saying that having the Delta F508 is the worst mutation I think they need to speak to their doctors or do more research. If your dr. is telling you this then maybe you need to get a second opinion or do your own research.Our dr's told us that the mutation does signify the severity of pancreatic insufficiency but that they believe the lung fuction is based on modifier genes. I have found this article on the Boomer Esiason site, which states that the lung function varies in people with DeltaF508. Please be careful when writing things because I got freaked out when I read this and had to research it for myelf.Mom to a CF daughter of 3 yrs old.Different Mutations Have Different EffectsIn CF patients, depending on the specific mutation, the CFTR protein may be reduced or missing from the cell membrane, or may be present but not function properly. In some mutations, synthesis of CFTR protein is interrupted, and the cells produce no CFTR molecules at all.Although about 500 mutations have been identified, one mutation is particularly common and occurs in 70 percent of all defective CF genes. This most common mutation is called delta F508 because the CFTR protein it encodes is missing a single amino acid at position 508. Almost half of all CF patients have inherited this mutation from both their parents. Because of its high prevalence, the consequences of mutation delta F508 have been studied in detail. This mutation affects CFTR processing in the cell and prevents it from assuming its functional location in the cell membrane. Newly synthesized CFTR protein normally is modified by the addition of chemical groups, folded into the appropriate shape and escorted by molecular chaperones to the cell surface. The cell has quality control mechanisms to recognize and destroy improperly processed proteins. However, under certain conditions, a small amount of this imperfect CFTR is incorporated into the cell membrane, where it appears to have a defect in opening and closing and regulating chloride flow.Other mutations produce defects in CFTR that do not impair its synthesis, modification or integration into the cell membrane. However, with some of these mutations the CFTR fails to respond normally to the signals within the cell that control the channel's opening and closing. With other mutations, the CFTR protein reaches the cell membrane and responds properly to intracellular signals, but when the channel opens, chloride flow out of the cell is inadequate.Although all these different mutations impair chloride transport, the consequences for the patients vary. For example, patients with mutations causing absent or markedly reduced CFTR protein in the cell membrane may have more severe disease with compromised pancreatic function and require pancreatic enzyme supplements. Patients with mutations in which CFTR is present in the cell membrane, but with altered function, may have adequate pancreatic function. Scientists have been less successful at correlating specific mutations with severity of lung disease than with pancreatic function.Patients with the delta F508 mutation on both CFTR gene copies usually develop early-onset pancreatic insufficiency combined with varying degrees of lung disease. A CFTR mutation called R117H, which also is relatively common, produces a partially functional CFTR protein. This "mild" mutation, in combination with a severe mutation such as delta F508, usually causes CF with preserved pancreatic function but varying lung disease. Some men with the R117H mutation are infertile because they lack the vas deferens, but have no other CF symptoms.
Mom to a CF daughter,I think if you had read the full posts of the people saying that Delta f508 was the "worst" mutation, you would have seen that they all go on to say, either in their original post or in subsequent posts how healthy they have been and the different experiences of people they know with 2 delta f508 mutations. No one wanted to scare you, I hope you realize that. Most of us are here to support eachother, we really didn't want to freak you out. Sorry if we did. My feeling is that the docs don't know as much about the other mutations as they do about delta f508, so they may think that is is more severe than others, but it might not be considered the worst if they knew more about the others. Just my 2 centsAndrea