GENE MUTATION

[katzyloo]

Hi folks, we got confirmation of a second gene mutation yestarday. Our consultant however has had no experience with the second gene as none of the 120 patients at the royal sick kids in edinburgh have this gene. The lab has concluded he has F508 and C2657+2_2657+3ins17 (previously known as 2789+2ins17).
I was wondering if anyone could shine some light on how individuals with atypical cf are affected and if anyone has this gene C2657+2_2657+3ins17?
thanks

 

[katzyloo]

Hi folks, we got confirmation of a second gene mutation yestarday. Our consultant however has had no experience with the second gene as none of the 120 patients at the royal sick kids in edinburgh have this gene. The lab has concluded he has F508 and C2657+2_2657+3ins17 (previously known as 2789+2ins17).
I was wondering if anyone could shine some light on how individuals with atypical cf are affected and if anyone has this gene C2657+2_2657+3ins17?
thanks

 

[katzyloo]

Hi folks, we got confirmation of a second gene mutation yestarday. Our consultant however has had no experience with the second gene as none of the 120 patients at the royal sick kids in edinburgh have this gene. The lab has concluded he has F508 and C2657+2_2657+3ins17 (previously known as 2789+2ins17).
<br />I was wondering if anyone could shine some light on how individuals with atypical cf are affected and if anyone has this gene C2657+2_2657+3ins17?
<br />thanks

 

[just1more]

If you go under "families" here the first post is by Steve with Ambry Genetics.

Post there or PM him and he might be able to help. Ambry has a vast database and a lot of experience with the various mutations.

Do remember however, that every patient is different. Two people with identical mutations (think siblings) can still have drastically different progressions.

 

[just1more]

If you go under "families" here the first post is by Steve with Ambry Genetics.

Post there or PM him and he might be able to help. Ambry has a vast database and a lot of experience with the various mutations.

Do remember however, that every patient is different. Two people with identical mutations (think siblings) can still have drastically different progressions.

 

[just1more]

If you go under "families" here the first post is by Steve with Ambry Genetics.
<br />
<br />Post there or PM him and he might be able to help. Ambry has a vast database and a lot of experience with the various mutations.
<br />
<br />Do remember however, that every patient is different. Two people with identical mutations (think siblings) can still have drastically different progressions.