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Gibson75
06-05-2013, 11:42 PM
Has anyone heard of mutation c.1584G>A also called [1716G/A]

kfortugno
05-29-2015, 09:33 PM
yes, Im trying to find the same information. my husband and I have the delta f508 and he also carries the mutation c.1584G>A. We have 2 frozen embryos that carry this and we are trying to find out if theuy will be safe to implant. My husband carries this same mutation and has no symptoms except infertility.

Gibson75
05-30-2015, 06:13 AM
I have been told that this mutation can effect the pancreas as it has with my son, who is PI and on creon. He is seen by CF doctors but has not been diagnosed as he continually gets a negative sweat test result. He had mild respiratory issues up until 18 months of age but is now doing very well. He is now 3. There is some reading about this mutation showing mild CF symptoms. My son also has DF508. He has a regular cough and has cultured Staph.A twice. He wrinkles excessively in the bath but this doesn't mean too much. There are known cases with this mutation combination however the data base says c.1584G>A (1716G>A) is not disease causing. This particular mutation is listed in the trial for residual functioning mutations, but I don't understand why they would list this mutation if it is apparently "non disease causing"??? I would be very interested in any information you may find out. 0 - See more at: http://forum.cysticfibrosis.com/threads/136127-DeltaF508-c-1584G-gt-A?p=1033188&posted=1#post1033188

kfortugno
06-05-2015, 11:42 PM
My husband is just like your son. He carries the DeltaF508 and the c.1584G>A. He as no symptoms, only infertility. I have heard in some children there is suspected pancreatitis, but I don't know what that's like. I hope your son doesn't suffer with pain, and I hope there are medicines that work. We are trying to prepare ourselves if the outcome of our children have mild cystic fibrosis. I just don't know what that means. As it stands we right now we have gone through IVF with genetic testing. All of our embryos were fully affected with CF except the two that have the minor mutation. They are still frozen waiting to implant. Doctors are not really in full support because they could carry symptoms. If there is anyone out there that share with minor CF looks like so my husband can prepare ourselves we would greatly appreciate it. Or anyone out there with this same gene combo..thank you, we would be so very grateful to listen to any advice.

chaxey
11-04-2015, 11:21 PM
Hi All, I wanted to add to this thread in case my information is helpful to others as I have just learned that I am also a carrier of c.1584G>A [1716G/A] CFTR Variation (p.Glu528Glu). I also have the mild CFTR mutation 11TG-5T, which I believe is also referred to as IVS8-5T. From my brief study even when 11TG-5T is paired with a known significant pathogenic mutation, still results in asymptomatic or very mild CF. Somewhat affirming that, I can state that I am 35 y/o male and have no symptoms of CF, nor had any idea that I was a carrier of either mutation despite being screened negatively for 97 other mutations during my wife's first pregnancy, which also proves I have no fertility issues!

My wife is a carrier of the DeltaF508 mutation; she has had no further screening but based on her health and history, we assume she has no other mutations.

We now have 2 healthy children, though one is at a minimum a carrier of DeltaF508 mutation... She is now 3 and healthy. At 3 mos, she was sweat tested, which was negative as well. As a stretch potential symptom, she does suffer from mild chronic constipation but has no respiratory issues whatsoever. Our other daughter is 18 months old and also healthy, no symptoms, and she did not test positively for deltaf508 at birth during her preliminary screenings. She has not been sweat tested.

The reason I performed additional testing recently is due to my sister and brother-in-law's daughter unexpectedly being diagnosed with CF despite no family history on either side. Both parents were screened before birth and we learned that my sister was also a carrier of DeltaF508, but like me, my brother-in-law tested negatively for his panel of 97 mutations. Unfortunately, they were not so lucky as us and their daughter was born with meconium ileus and shortly thereafter diagnosed with CF after successful surgery via sweat test and a genetic workup. My brother-in-law was later found to carry a rarer gene deletion common in eastern Europe.

Almost immediately following this, my wife and I learned we were again (unexpectedly) pregnant, so my doctor had a full genetic screening performed on my CFTR gene to ensure that my original testing was accurate and that my daughter did not receive the DeltaF508 gene from me now that we knew my sister and family was linked to the common mutation. The goal was to ensure we didn't just get lucky with our first two children. My wife miscarried at 9 weeks, but the revelation that I had two potential mutations is still worrisome for us as our oldest daughter likely inherited c.1584G>A or the 11TG-5T mutation from me, unless we got lucky and my mutations are resident to a complex allele, meaning there's a chance one of my genes is actually clean and both of my mutations reside on a single allele.

My parents have had no genetic testing performed, but my mother suffers from chronic cough and significant finger clubbing, which has been diagnosed as CREST Syndrome, a rare autoimmune disease. It is my theory that this diagnosis is not correct and she is instead suffering from mild-adult onset CF, though I have no way to prove this and the more likely scenario is that I have watched to many episodes of Dr. House and am substituting Google.com for a medical degree. That said, she exhibits none of the most common expected symptoms of CREST syndrome, and we have 3 known CFTR mutations in our direct family tree, so it seems at least plausible, right?

Anyway, I will follow-up here on this thread as any new family history info or knowledge presents in relation to c.1584G>A.

My concern is that my mother's gene paring is c.1584G>A or 11TG-5T and DeltaF508 and provides a glimpse into the possible future of my oldest daughter or if future potential children were to be paired with this combo. While my mother had a healthy initial 45 years, the last 15 have been progressively worse yoy.

Best to you all,
Chase

evarestos
11-05-2015, 11:47 AM
One of the variations i have is the 1716g/a combined with two other variations, from the clinic they told me that they re not pathogenic ,from my own research ,somewhere i found a research mentioning that the 1716g/a may decrease cftr expression up to 10% and combined for example with the df508 wich decreases cftr up to 50% ,still both of them dont fullfill the requirements of a such lowered cftr expression which might cause serious problems,since for the lungs to work properly they need about 10% of cftr expression.
I am a 22 yr old male and my whole life i was healthy ,i ve got tested for CF because of my finger clubbing, borderline initially ,negative the second time, from that very stressfull period of my life (10 minths ago) i started having gut issues, i was afraid and still i am if it is related to my pancreas but ultrasound and serum enzymes were ok.
I would advice you not to be stressed ,even your moms syndrome might actually be CREST

best to you!

Gibson75
11-05-2015, 05:00 PM
One of the variations i have is the 1716g/a combined with two other variations, from the clinic they told me that they re not pathogenic ,from my own research ,somewhere i found a research mentioning that the 1716g/a may decrease cftr expression up to 10% and combined for example with the df508 wich decreases cftr up to 50% ,still both of them dont fullfill the requirements of a such lowered cftr expression which might cause serious problems,since for the lungs to work properly they need about 10% of cftr expression.
I am a 22 yr old male and my whole life i was healthy ,i ve got tested for CF because of my finger clubbing, borderline initially ,negative the second time, from that very stressfull period of my life (10 minths ago) i started having gut issues, i was afraid and still i am if it is related to my pancreas but ultrasound and serum enzymes were ok.
I would advice you not to be stressed ,even your moms syndrome might actually be CREST

best to you!


Hi,
If you have the finger clubbing, doesn't that usually suggest lung issues? Also have you ever had issues with an on-going cough?

evarestos
11-05-2015, 05:09 PM
I never had any lung issues or prolonged cough, i did HRCT scan which didnt reveal anything (the doctors said that my lungs look perfectly healthy) ,good spirometry FEV1 : 110% , oxygen saturation 98% ,
i also did colonoscopy ,blood gas and may other tests ,nothing... Only the sweat test was borderline..