R1162X - Who else?

N

norcotrent

New member
Hi All,

We've been putting this off b/c we really weren't sure that it mattered but (after total addiction to this sight for several months and concluding that maybe it does matter) finally asked yesterday at a clinic visit what Cass's mutations are. We were told Delta F508 (not surprising) and R1162X (surprising).

Can anyone please enlighten us on their experiences with this mutation?

Thanks,

Trent
 
N

NoExcuses

New member
i don't have the mutation, but will caution you against comparing experiences with those with R1162X. There are so many things that affect clinical outcomes such as modifier genes, environment, compliance, medical care, etc.

There are many instances where two patients have the same set of mutations but drastically different CF experiences.
 
H

henryb

New member
Hi Trent,

I haven't checked this site for a while, actually for over a year and just came across your message.
Our two daughters (19 and 23) have the same mutations as Cass: Delta F508 and R1162X.
From what I have read about this nonsense mutation (R1162X) and from personal experiences with our two daughters I can assure you that R1162X seems to be responsible for a milder form of disease, especially as far as the pulmonary system is concerned.
We are hoping for a new drug, called PTC124. This helps in the case of a nonsense mutation. R1162X is such a nonsense mutation.
The latest results with PTC124 are encouraging. Fingers crossed that this drug will be available on the market in a few years.
All the best to you,
Henry (from Austria, Europe)
 
H

henryb

New member
Hi Trent,

I haven't checked this site for a while, actually for over a year and just came across your message.
Our two daughters (19 and 23) have the same mutations as Cass: Delta F508 and R1162X.
From what I have read about this nonsense mutation (R1162X) and from personal experiences with our two daughters I can assure you that R1162X seems to be responsible for a milder form of disease, especially as far as the pulmonary system is concerned.
We are hoping for a new drug, called PTC124. This helps in the case of a nonsense mutation. R1162X is such a nonsense mutation.
The latest results with PTC124 are encouraging. Fingers crossed that this drug will be available on the market in a few years.
All the best to you,
Henry (from Austria, Europe)
 
H

henryb

New member
Hi Trent,

I haven't checked this site for a while, actually for over a year and just came across your message.
Our two daughters (19 and 23) have the same mutations as Cass: Delta F508 and R1162X.
From what I have read about this nonsense mutation (R1162X) and from personal experiences with our two daughters I can assure you that R1162X seems to be responsible for a milder form of disease, especially as far as the pulmonary system is concerned.
We are hoping for a new drug, called PTC124. This helps in the case of a nonsense mutation. R1162X is such a nonsense mutation.
The latest results with PTC124 are encouraging. Fingers crossed that this drug will be available on the market in a few years.
All the best to you,
Henry (from Austria, Europe)
 
H

henryb

New member
Hi Trent,

I haven't checked this site for a while, actually for over a year and just came across your message.
Our two daughters (19 and 23) have the same mutations as Cass: Delta F508 and R1162X.
From what I have read about this nonsense mutation (R1162X) and from personal experiences with our two daughters I can assure you that R1162X seems to be responsible for a milder form of disease, especially as far as the pulmonary system is concerned.
We are hoping for a new drug, called PTC124. This helps in the case of a nonsense mutation. R1162X is such a nonsense mutation.
The latest results with PTC124 are encouraging. Fingers crossed that this drug will be available on the market in a few years.
All the best to you,
Henry (from Austria, Europe)
 
H

henryb

New member
Hi Trent,
<br />
<br />I haven't checked this site for a while, actually for over a year and just came across your message.
<br />Our two daughters (19 and 23) have the same mutations as Cass: Delta F508 and R1162X.
<br />From what I have read about this nonsense mutation (R1162X) and from personal experiences with our two daughters I can assure you that R1162X seems to be responsible for a milder form of disease, especially as far as the pulmonary system is concerned.
<br />We are hoping for a new drug, called PTC124. This helps in the case of a nonsense mutation. R1162X is such a nonsense mutation.
<br />The latest results with PTC124 are encouraging. Fingers crossed that this drug will be available on the market in a few years.
<br />All the best to you,
<br />Henry (from Austria, Europe)
 
K

KateLarge

New member
I also have a small daughter with the DF508/R1162X combo. As rightly said, be careful, as I myself found the profile of a beautiful young woman with the same genetics who I later found had actually died. I was devastated for weeks. There are a lot of external influences as well as genetics, but I will jump in and say that at 19 months, our daughter is very well. Her chest x ray is clear, little mucus production, and her Creon dose is about four capsules a day (she is still a baby, remember!) I have read that R1162X is most common in Northern Italy, the Mediterranean, and with some small pockets in Latin America. I am from Northern Ireland and carry the DF508 gene, NOT the 'Celtic' G551D gene and my blonde, English husband has the R1162X. Very strange! From what I have read about Ataluren it sounds much less of a success than Kalydeco, have more of a role of slightly slowing lung function decrease than actually creating benefit. Perhaps we will have access to but right now in the UK Kalydeco is our focus!!
 
You must log in or register to reply here.
Top