Hello everyone , I was just wondering if anyone could give me information on a certain gene type or if anyone you know has it . My cousin who is now 28mths old was diagnosed with CF at 3mths , only last week we got the gene types she has , the wait was long cause her samples had to be done in France { I live in Ireland }! On the results letter we received it says she has F508 but also has a second mutation <b>C3889-3890dupt</b> , they've never seen it here in Ireland before and can't tell us anything about it , just that we have to wait and see how she progresses . If anyone has any information on this my family would really appreicate it .
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Can anyone help
- Thread starter Tan
- Start date
Unfortunately I have never heard of this CF mutation but hopefully someone on here has and can give you the info you are looking for.
It is worthy to note though, that it is believed there is NO real coorelation between CF mutations and the severity of someone's CF. Siblings, even twins with the exact same mutation have various degrees of severity with some having digestive, lungs and in males reproductive problems, while the other sibling has JUST digestive, or Just lungs. I know you were hoping for more/better information than that, but don't get too hung up with the mutations and what ailments your cousin might have because scientists are still in the research stage of that.
On a different note, welcome to the site. I hope that you feel comfortable coming here and asking your questions, joining in discussions and have found a safe place to talk about CF related concerns, discussions and sometimes just life in general!
It is worthy to note though, that it is believed there is NO real coorelation between CF mutations and the severity of someone's CF. Siblings, even twins with the exact same mutation have various degrees of severity with some having digestive, lungs and in males reproductive problems, while the other sibling has JUST digestive, or Just lungs. I know you were hoping for more/better information than that, but don't get too hung up with the mutations and what ailments your cousin might have because scientists are still in the research stage of that.
On a different note, welcome to the site. I hope that you feel comfortable coming here and asking your questions, joining in discussions and have found a safe place to talk about CF related concerns, discussions and sometimes just life in general!
have you checked out www.sickkids.org? They have a database (which may or may not include only patients in the US, I honestly don't know) that you can search to check for any matches. My understanding is that the genes can give you an idea of what to expect (serverity-wise) but there are also so many other genes (not to mention environment issues) that play into ones health, which makes it impossible to know for sure what the future holds. The genes are given classes and depending on the classes there can be more or less functioning of the CFTR protein - more functioning is good, but as I said previously, there are other genes that play into the equations too. Whomever gave you the name of the mutation should be able to tell you which class the rarer mutation falls into. DF508 is a class 2, they range from 1-5, 1 providing the least amount of CFTR function, 5 the most...Hope this helps ya a little.