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cenow1982
06-25-2014, 06:34 AM
My son was diagnosed at 6 years old and has the genetic combination R117H as one gene and 5T as the other. I'm very confused at what this all means. Can anyone clarify?

Meabtahi
06-25-2014, 09:36 AM
I'm not a pro but my daughter has r117h so we did a lot of research on this mutation and have talked to ourncf clinic about it. From my understanding, r117h is a variable mutation depending on the t tract that it is in phase with. There are 3 different variants on the t tract - 5t/7t/9t with 9 being he best and basically normal functioning and 5 potentially leading to cf, however, a more mild case typically. Do you know what the t variant with your r117h is as your post makes it sound like 5t is on the opposite chromosome. We all have two sets of t variants so you need to know which is in phase with the r117h and what is on the other chromosome as well to help determine severity. Good news is from what I have read r117h is a more mild mutation regardless - however, it is likely to cause infertility in boys.

CFParent2
06-26-2014, 09:29 AM
My son was diagnosed at 6 years old and has the genetic combination R117H as one gene and 5T as the other. I'm very confused at what this all means. Can anyone clarify?

He has 2 gene mutations to have CF. R117H is one of those mutations. 5T Allele is an additional designation associated with a gene mutation. For example if R117H was a name of a car like a Civic, 5T would be an additional designation like Hatchback or coupe. Usually they identify two gene mutations, but not always since some are not known. Check your records to see if his other mutation is known.

Before they knew how to correct most all defects at the cellular level (2 days ago) his future would have been governed by his most functional gene mutation. R117H is a mutation that is partially functioning and is generally associated with pancreatic sufficiency(can digest food correctly without taking enzyme pills). There are also specific outcomes associated with the 5T allele but I don't have that chart and there are no guarantees since it also depends on even more genetic info.

Due to Vertex's latest drug combinations study results as of 2 days ago, the future of CF predictions outcomes is likely to improve greatly for nearly everyone with CF.

cenow1982
06-27-2014, 01:49 PM
His genetic testing came back as having R117H as one gene and 5T is recorded as the other gene (genetic testing was completed at John Hopkins). He has several positive sweat tests, he is pancreatic insufficient, has advanced sinus disease and has been hospitalized for reoccurring lung infections. I can not find any information on 5T as it's own mutation. :( very confused. I'm just trying to gather as much information as possible.

Beccamom
06-27-2014, 08:51 PM
Have you looked at CFTR2 which is a research project run at John Hopkins. If you google CFTR2 you can see a database of genetics related to CF. in your son's case his one CFTR gene has a mutation R117H and his second CFTR gene has a 5T variant. Both of these can cause CF and based on your son's positive sweat test these may be the reason or he may also have an unknown mutation yet to be discovered.

Each person inherits 2 CFTR genes and each of these may or may not have a mutation that causes CF. Also each of the CFTR genes has a variant either 5T, 7T, or 9T. Since his 5T is on one of his CFTr genes do you know variant being 5T, 7T, or 9T on the gene with the R117H mutation. If the R117H mutation is on a gene that also has a 5T variant this is more likely to cause CF symptoms then a R117H mutation on a CFTr gene with a 7T or 9T variant.

I hope that helps. I am not a doctor, but had a great genetic explanation from a geneticist.


His genetic testing came back as having R117H as one gene and 5T is recorded as the other gene (genetic testing was completed at John Hopkins). He has several positive sweat tests, he is pancreatic insufficient, has advanced sinus disease and has been hospitalized for reoccurring lung infections. I can not find any information on 5T as it's own mutation. :( very confused. I'm just trying to gather as much information as possible.