DeltaF508 c.1584G>A


New member
My husband and I are in the process of doing IVF with icsi due to we both carry the Delta F508 and he carries another copy 1584 G>A. We have 2 frozen embryos frozen that have my delta F508 and my husbands 1584G>A. I cannot find much research with this combination. Our doctor said he would not implant due to the fact it could result in symptoms in a child. Even though it has not show symptoms in my husband. We are heartbroken! Does anyone out there know or have any research with this gene combination?


Super Moderator
Given that the doctor has refused even though your husband has no symptoms, I doubt other info would convince him. Might I suggest that you consider working with snowflakes to find a way to safely transfer your tiny ones to another doctor who would be able to help implant your precious babies.


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.