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2183aa > G or S945L
Hi Folks! I'm trying to pull some data but Google isn't being incredibly helpful.... there really isn't a place to pull this kind of data.. I'd like to know what symptoms are related to which genes... and so I think this may work out well. I think there are at least a few people on these forums with these genes. This is what I'd like to know: Which genes do you have? (please only reply if you have either 2183aa->G or S945L, thank you!) What are your major CF-related symptoms (lungs,sinuses,pancreas,other)? What medications work best for you to manage health? (pulmozyme, etc) Whats your PFT%? (Just the last result is...
Source: Cystic Fibrosis DNA and Mutations Forum - May 19, 2015 Category: Respiratory Medicine Authors: Dank Tags: DNA and Mutations Source Type: forums

I am not going to sit back anymore.
Ok. My only child, my daughter Suzie, is 25 years old. She was diagnosed at 11 years old. We just learned of her mutation about a year ago. We always knew one was the Delta 508. They have finally found the other but they said no one else has it. And it does not have an easy name. I will write it as it says on her chart: 869+1 869+4 delGTAA insACATTATT I had asked all of you previously but no one really knew. I am hoping now that somebody will recognize this or maybe give me some tips? I believe that Kalydeco would change her life, and her attitude about life! She is doing her last 3 days of Cayston and is co...
Source: Cystic Fibrosis DNA and Mutations Forum - May 15, 2015 Category: Respiratory Medicine Authors: suziesmom Tags: DNA and Mutations Source Type: forums

referral for CFTR
Afternoon all, had a bit of a bombshell today, after a persistant cough for 18 months which is productive I've been sent for CFTR test. Is this normal in a 27yo female? Chronic autoimmune issues for 25 years plus so not new to Drs. Can an anyone offer words of wisdom or similar?! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - May 8, 2015 Category: Respiratory Medicine Authors: Aimee Ford-Young Tags: DNA and Mutations Source Type: forums

g1069r
I have spent countless hours trying to find anyone with the mutation g1069r. I'm really not expecting that anyone will respond because it just seems to be incredibly rare but figured I'd post anyways just in case. I've found some mention of the mutation in a few studies and listed on some patent requests - but I'm just curious if anyone out there has any experience with this mutation. My 9 month old has one copy of df508 and one g1069r which is currently categorized as a mutation of varying consequence in the CFTR database. He has a CRMS dx currently - but I'd love to find out more! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - April 7, 2015 Category: Respiratory Medicine Authors: emason Tags: DNA and Mutations Source Type: forums

Question on residual function
Can someone tell me how to find out which mutations are considered residual function? I saw where vertex is doing a new study on one df508 and one with a residual function. My kids have a class I mutation and a df508. Thanks. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - April 1, 2015 Category: Respiratory Medicine Authors: Nikole Tags: DNA and Mutations Source Type: forums

positive sweat test but no cf ???
My daughter was diagnosed with cf for 15 years. They then found her variance to be 7542 and now no c.f.. does anyone else have this? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - March 25, 2015 Category: Respiratory Medicine Authors: Salbal Tags: DNA and Mutations Source Type: forums

More than 2 mutations?
Hi, I am new here. Anyone else who has more than 2 mutations? Seems like our daughter has. She was recently diagnosed after sweat and genetictest. At first the doctors gave us 2 mutations but now they found a third one. Just curios if someone else has it. //drea (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - March 22, 2015 Category: Respiratory Medicine Authors: Drea75 Tags: DNA and Mutations Source Type: forums

Delta 508 & C2657+2_2657+3INSA
Hi there Our gorgeous little e girl was diagnosed with CF at 3 weeks old. She is now 3 months old and doing great. We have just got the results back in relation to her gene mutation. One of then is d508 and the other is C2657+2_2657+3INSA which I have been advised is a very rare gene type. We are based in Ireland and our consultant knows very little about this particular gene combination. One thing that he has indicated is that our daughter is likely to to be pancreas sufficient and that she may have a milder form of cf. As you can appreciate we are trying to get out heads around this and believe that this is very good ne...
Source: Cystic Fibrosis DNA and Mutations Forum - March 6, 2015 Category: Respiratory Medicine Authors: G-STAR Tags: DNA and Mutations Source Type: forums

Even More Promising News!
Even more promising news from CF Roundtable: http://www.cfroundtable.com/2015/02/...s-medications/ (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - February 13, 2015 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums

More Promising News
From CF Roundtable: Trials for CF Patients Homozygous DeltaF508 Now Enrolling! http://www.cfroundtable.com/2015/02/...armaceuticals/ (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - February 9, 2015 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums

How to find out classifications for Mutation D36N.
Can someone please help me understand how to find out classification for a particular mutation. Some one I know has D36N which looks like a rare mis sense mutation. But want to know what class this belongs to and if Kalydeco off label works for this. Any help appreciated. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - February 9, 2015 Category: Respiratory Medicine Authors: Mallika Tags: DNA and Mutations Source Type: forums

question on mutatuon
my daughter is in the process of multiple sweat test for a diagnosis and just had her blood work done today. I have a thread in newly diagnosed on everything that is going on with her. I guess Im mainly here to ask about gene mutation. from what I have read online about cystic fibrosis is the gene has to come from each parent. first question: if the parent has the gene but no signs/diagnosis of CF is their gene mutated also? second question: with CF if my daughter comes back with a mutated gene, that means she got the gene from us her parents so does that mean we got the gene from our parents?? my daughters uncle is go...
Source: Cystic Fibrosis DNA and Mutations Forum - February 7, 2015 Category: Respiratory Medicine Authors: jabug8 Tags: DNA and Mutations Source Type: forums

Mutation Database
Afternoon - I was wondering if anyone knew of an updated mutation database? The CFTR 2 website hasn't been updated since April 2012...that's almost 3 years ago! I posted this question on a facebook group, but thought I would try here. My daughter has a rare mutation w/ varying consequences and only 4 people in that database with her exact pair. There should be more updated information over a 3 year time period, especially with the newborn screening process. Hoping to find it. I'm just...desperate for more information I guess. Thanks, in advanced (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - January 26, 2015 Category: Respiratory Medicine Authors: lauryn.tubes Tags: DNA and Mutations Source Type: forums

Test For The "Normal' CFTR Gene?
For quite a while I had been wondering why genetic testing for CF did not involve looking for the known “normal” CFTR gene instead of looking for one of the many known mutations. This seems like it should be much simpler. It should also have the benefit of not missing a diagnosis because a patient’s mutation(s) had not been identified yet. I was going to pose the question here, thinking someone like LittleLab4CF might have the answer. Instead I asked the Cystic Fibrosis Foundation and this was their reply: Hi ---, Thank you for your message and for including some information about yourself. We apologize f...
Source: Cystic Fibrosis DNA and Mutations Forum - January 18, 2015 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums

1471delA and DeltaF508
Anyone with 1471delA mutations ? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - January 11, 2015 Category: Respiratory Medicine Authors: Kinga J Mears Tags: DNA and Mutations Source Type: forums