AceZar8910
New member
My daughter just found out she has Delta 508 and S489x.
I'm not sure what these mean could anyone fill me in a little further?
I'm not sure what these mean could anyone fill me in a little further?
Mutations
- Thread starter AceZar8910
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AceZar8910
New member
My daughter just found out she had these two mutations and I didn't know if anyone could tell me anything about these mutations such as what she will being dealing with? Or what these two combined mean? We are seeing a great doctor down in St. Louis at an APPROVED CF CENTER. My daughters age is 2 months
Aboveallislove
Super Moderator
I'll see what I can find out for you. Hugs
AceZar8910
New member
Thank you so much 
AceZar8910
New member
We spoke with the nurse on the phone down in St. Louis and she told us she didn't know much about the s489x mutation so she would prefer if we spoke with the doctor about it when we came down there next on October 29th.
I will not attempt to play Doctor here but I will talk more to you after your appointment. I will tell you that there are over 1800 known mutations. Given that a CF patient needs 2 mutations (1800X1800) there are over 3.2 million possible combinations. Delta F508 is the most common. Lets say that taking into consideration the combinations of the most common mutations, the real number would be only 10% of the 3.2 million, 320,000 types of CF. Then you consider that twins with the same pair of mutations (same household, food, medical care, etc) react different from each other. You will see that it is impossible to predict how Delta F508 & S489X will react with your daughter.
Your Doctor will tell you about the great drugs that we now have and those in the pipeline. He/She will tell you that with care and nutrition, your daughter can live a long and healthy life.
Lets talk more after the 28th.
Bill
Your Doctor will tell you about the great drugs that we now have and those in the pipeline. He/She will tell you that with care and nutrition, your daughter can live a long and healthy life.
Lets talk more after the 28th.
Bill
Aboveallislove
Super Moderator
This is what I found out:
The S489X has a stop codon at position 489, so a short protein is formed- this means pretty much no functional protein. http://www.cftr2.org/mutation.php?view=general&mutation_id=109
As a F508del heterozygote the medications from vertex may help (VX661/Kalydeco + maybe more correctors, maybe VX809 if they can improve the dosage). Ataluren or other similar medications that help with read through past the stop codon might help the S489X.
Me: There are different "classes" of mutations based on the problem with it. f508del is a Class 2 and I think from the above description that would mean S489X is a Class 1. There are different drugs that are working to fix different problems. There is one drug approved Kalydeco which does't help yet for these mutations, but they have 809 and 661 in the works for f508del and several "second generation" ones which will be coming after those. Your little one is a "heterozygote" meaning he has 1 copy of each mutation. It will likely be about 4 years for 809 or 661 to be ready for heterozygotes but your baby is so young, they wouldn't give the meds to her now anyway. They are also working on meds for S489X and those drugs would be likely in addition to the Kalydeco/809/661. Those drugs fix the protein that doesn't function and is really working miracles for those on Kalydeco. So there is a ton of hope right around the corner for a long "normal" life. In the meantime, doing all the treatments, etc. will keep your dear daughter healthy until then. Hugs.
The S489X has a stop codon at position 489, so a short protein is formed- this means pretty much no functional protein. http://www.cftr2.org/mutation.php?view=general&mutation_id=109
As a F508del heterozygote the medications from vertex may help (VX661/Kalydeco + maybe more correctors, maybe VX809 if they can improve the dosage). Ataluren or other similar medications that help with read through past the stop codon might help the S489X.
Me: There are different "classes" of mutations based on the problem with it. f508del is a Class 2 and I think from the above description that would mean S489X is a Class 1. There are different drugs that are working to fix different problems. There is one drug approved Kalydeco which does't help yet for these mutations, but they have 809 and 661 in the works for f508del and several "second generation" ones which will be coming after those. Your little one is a "heterozygote" meaning he has 1 copy of each mutation. It will likely be about 4 years for 809 or 661 to be ready for heterozygotes but your baby is so young, they wouldn't give the meds to her now anyway. They are also working on meds for S489X and those drugs would be likely in addition to the Kalydeco/809/661. Those drugs fix the protein that doesn't function and is really working miracles for those on Kalydeco. So there is a ton of hope right around the corner for a long "normal" life. In the meantime, doing all the treatments, etc. will keep your dear daughter healthy until then. Hugs.
Aboveallislove
Super Moderator
Jenny: Isn't Abby's second one also a stop cordon? Anything more you can share on that for her?
Yes, Abby has 2585delT which is a stop codon, Class I mutation. Her stop is right at the beginning of the protein. Abby is 7 and on Kalydeco. While it is not her "cure" it is helping her. It has improved her lung function, decreased her sweat chloride and helped get rid of the bugs in her throat cultures. CF is so tricky and everyone is so different. Abby is a healthy, very happy kid. You would never know anything was wrong with her. Like she said there is so much hope right now. Life for our kiddos is gonna change for the better and you daughter being so young, it will really benefit her, so just keep your chin up and keep up with all of her treatments. Congratulations on your new little blessing by the way. I miss having a little one, mine is getting so big I know that this is very scary and overwhelming, it will get better and you will become a CF expert, just wait and see. You finding this group early on is a blessing in itself. Anytime you have a question or a concern just post and someone on here more than likely has been there and done that and can help you through. I promise it will get better and easier, it's just a lot of info to swallow at first My first year was a blurr....just a huge whirlwind of information and emotion. Hope this helped. CF will stand for Cure Found one day
I know that this is very scary and overwhelming, it will get better and you will become a CF expert, just wait and see. You finding this group early on is a blessing in itself. Anytime you have a question or a concern just post and someone on here more than likely has been there and done that and can help you through. I promise it will get better and easier, it's just a lot of info to swallow at first My first year was a blurr....just a huge whirlwind of information and emotion. Hope this helped. CF will stand for Cure Found one dayAceZar8910
New member
Thank you so much Jenny and allislove.