Mutations G542X & R553X

[fondreflections]

Hey Guys & Girls,

Well, I recently was tested to find out what mutations I have and was told that I have G542X & R553X. Can anyone offer some advice on these strains? Are they mild forms? Is there somewhere where I could be directed to further research them?

Thank you, <img src="i/expressions/face-icon-small-smile.gif" border="0">

Oh, would my sister also have the same strains since she has CF too?

 

[fondreflections]

Hey Guys & Girls,

Well, I recently was tested to find out what mutations I have and was told that I have G542X & R553X. Can anyone offer some advice on these strains? Are they mild forms? Is there somewhere where I could be directed to further research them?

Thank you, <img src="i/expressions/face-icon-small-smile.gif" border="0">

Oh, would my sister also have the same strains since she has CF too?

 

[fondreflections]

Hey Guys & Girls,

Well, I recently was tested to find out what mutations I have and was told that I have G542X & R553X. Can anyone offer some advice on these strains? Are they mild forms? Is there somewhere where I could be directed to further research them?

Thank you, <img src="i/expressions/face-icon-small-smile.gif" border="0">

Oh, would my sister also have the same strains since she has CF too?

 

[fondreflections]

Hey Guys & Girls,

Well, I recently was tested to find out what mutations I have and was told that I have G542X & R553X. Can anyone offer some advice on these strains? Are they mild forms? Is there somewhere where I could be directed to further research them?

Thank you, <img src="i/expressions/face-icon-small-smile.gif" border="0">

Oh, would my sister also have the same strains since she has CF too?

 

[fondreflections]

Hey Guys & Girls,

Well, I recently was tested to find out what mutations I have and was told that I have G542X & R553X. Can anyone offer some advice on these strains? Are they mild forms? Is there somewhere where I could be directed to further research them?

Thank you, <img src="i/expressions/face-icon-small-smile.gif" border="0">

Oh, would my sister also have the same strains since she has CF too?

 

[jbrandonAW]

you can google them, I did mine. And I dunno about the sis, I think its possible she would ahve different ones but I dunno

 

[jbrandonAW]

you can google them, I did mine. And I dunno about the sis, I think its possible she would ahve different ones but I dunno

 

[jbrandonAW]

you can google them, I did mine. And I dunno about the sis, I think its possible she would ahve different ones but I dunno

 

[jbrandonAW]

you can google them, I did mine. And I dunno about the sis, I think its possible she would ahve different ones but I dunno

 

[jbrandonAW]

you can google them, I did mine. And I dunno about the sis, I think its possible she would ahve different ones but I dunno

 

[lightNlife]

In all honesty, there is no such thing as a 'mild' strain of CF. There are however, mild stages of the disease. Researchers are still working hard to compile the different mutation combinations and see if they can link certain symptoms or characteristics to them.

There are more than 150 mutations that result in CF, only a fraction of which have been studied to any great extent.

Many people hope that they get a "mild" case of CF, but that doesn't happen. CF is CF. It's a progressive disease and will, at some point, adversely affect all of the body's systems. I know many people want the assurance and hope of knowing what the future holds for them with CF, but that's not do-able at this point in time.

The mutation you mention, G542X & R553X, is one of the 4 most common. The studies that have been done to understand that particular mutation have identified R553X as a "nonsense" mutation. Patients with G542X exhibited less lung involvement, but severe pancreatic disease. The same is true for the R553X mutation.

This does not mean that you won't ever have lung involvement or that you won't have to do preventive meds to ward off lung disease. You are more likely (but NOT GUARANTEED) to only have digestive issues to deal with at first.

CF seems to take advantage of humankind's uniqueness. No two people on the earth are fully identical, and no two presentations of CF are identical, not even within families.

 

[lightNlife]

In all honesty, there is no such thing as a 'mild' strain of CF. There are however, mild stages of the disease. Researchers are still working hard to compile the different mutation combinations and see if they can link certain symptoms or characteristics to them.

There are more than 150 mutations that result in CF, only a fraction of which have been studied to any great extent.

Many people hope that they get a "mild" case of CF, but that doesn't happen. CF is CF. It's a progressive disease and will, at some point, adversely affect all of the body's systems. I know many people want the assurance and hope of knowing what the future holds for them with CF, but that's not do-able at this point in time.

The mutation you mention, G542X & R553X, is one of the 4 most common. The studies that have been done to understand that particular mutation have identified R553X as a "nonsense" mutation. Patients with G542X exhibited less lung involvement, but severe pancreatic disease. The same is true for the R553X mutation.

This does not mean that you won't ever have lung involvement or that you won't have to do preventive meds to ward off lung disease. You are more likely (but NOT GUARANTEED) to only have digestive issues to deal with at first.

CF seems to take advantage of humankind's uniqueness. No two people on the earth are fully identical, and no two presentations of CF are identical, not even within families.

 

[lightNlife]

In all honesty, there is no such thing as a 'mild' strain of CF. There are however, mild stages of the disease. Researchers are still working hard to compile the different mutation combinations and see if they can link certain symptoms or characteristics to them.

There are more than 150 mutations that result in CF, only a fraction of which have been studied to any great extent.

Many people hope that they get a "mild" case of CF, but that doesn't happen. CF is CF. It's a progressive disease and will, at some point, adversely affect all of the body's systems. I know many people want the assurance and hope of knowing what the future holds for them with CF, but that's not do-able at this point in time.

The mutation you mention, G542X & R553X, is one of the 4 most common. The studies that have been done to understand that particular mutation have identified R553X as a "nonsense" mutation. Patients with G542X exhibited less lung involvement, but severe pancreatic disease. The same is true for the R553X mutation.

This does not mean that you won't ever have lung involvement or that you won't have to do preventive meds to ward off lung disease. You are more likely (but NOT GUARANTEED) to only have digestive issues to deal with at first.

CF seems to take advantage of humankind's uniqueness. No two people on the earth are fully identical, and no two presentations of CF are identical, not even within families.

 

[lightNlife]

In all honesty, there is no such thing as a 'mild' strain of CF. There are however, mild stages of the disease. Researchers are still working hard to compile the different mutation combinations and see if they can link certain symptoms or characteristics to them.

There are more than 150 mutations that result in CF, only a fraction of which have been studied to any great extent.

Many people hope that they get a "mild" case of CF, but that doesn't happen. CF is CF. It's a progressive disease and will, at some point, adversely affect all of the body's systems. I know many people want the assurance and hope of knowing what the future holds for them with CF, but that's not do-able at this point in time.

The mutation you mention, G542X & R553X, is one of the 4 most common. The studies that have been done to understand that particular mutation have identified R553X as a "nonsense" mutation. Patients with G542X exhibited less lung involvement, but severe pancreatic disease. The same is true for the R553X mutation.

This does not mean that you won't ever have lung involvement or that you won't have to do preventive meds to ward off lung disease. You are more likely (but NOT GUARANTEED) to only have digestive issues to deal with at first.

CF seems to take advantage of humankind's uniqueness. No two people on the earth are fully identical, and no two presentations of CF are identical, not even within families.

 

[lightNlife]

In all honesty, there is no such thing as a 'mild' strain of CF. There are however, mild stages of the disease. Researchers are still working hard to compile the different mutation combinations and see if they can link certain symptoms or characteristics to them.

There are more than 150 mutations that result in CF, only a fraction of which have been studied to any great extent.

Many people hope that they get a "mild" case of CF, but that doesn't happen. CF is CF. It's a progressive disease and will, at some point, adversely affect all of the body's systems. I know many people want the assurance and hope of knowing what the future holds for them with CF, but that's not do-able at this point in time.

The mutation you mention, G542X & R553X, is one of the 4 most common. The studies that have been done to understand that particular mutation have identified R553X as a "nonsense" mutation. Patients with G542X exhibited less lung involvement, but severe pancreatic disease. The same is true for the R553X mutation.

This does not mean that you won't ever have lung involvement or that you won't have to do preventive meds to ward off lung disease. You are more likely (but NOT GUARANTEED) to only have digestive issues to deal with at first.

CF seems to take advantage of humankind's uniqueness. No two people on the earth are fully identical, and no two presentations of CF are identical, not even within families.

 

[Alyssa]

To add to what lightNlife said about no such thing as mild strain of CF -- I want to clarify that doctors do refer to class 4 and 5 genes as "mild variant genes" (I'm assuming because the defect in the CFTR is more mild), so perhaps that's what you have heard.

I copied an entire post from the newly diagnosed boards that has a lot of information posted by emily -- couldn't get it to go with the inset quote box but here it is ~~~~~~~~
~~~~~~copy below~~~~~

Welcom to the site. Below, I've listed some info that Emily65Roses gave me a while back when someone had a question about mutations. Also, you can do a search and read all of the discussions here about them. Another good source of information is LightNlife's blog. She has links to all sorts of articles and information. There are a lot of well informed members here and I know they will be happy to explain things to you.

I'm sorry you are faced with this disease. This site is full of support and information. I firmly believe that knowledge is power and there is much knowledge to be obtained here. I wish you and your family the best.

Stacey


Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.


-------------------------
Emily. 23 w/CF.
*Dating Mike since 8-11-03*
*Getting married on 4-9-10*

~~~~~~~~~~~~end copy~~~~~~~~~~~~

 

[Alyssa]

To add to what lightNlife said about no such thing as mild strain of CF -- I want to clarify that doctors do refer to class 4 and 5 genes as "mild variant genes" (I'm assuming because the defect in the CFTR is more mild), so perhaps that's what you have heard.

I copied an entire post from the newly diagnosed boards that has a lot of information posted by emily -- couldn't get it to go with the inset quote box but here it is ~~~~~~~~
~~~~~~copy below~~~~~

Welcom to the site. Below, I've listed some info that Emily65Roses gave me a while back when someone had a question about mutations. Also, you can do a search and read all of the discussions here about them. Another good source of information is LightNlife's blog. She has links to all sorts of articles and information. There are a lot of well informed members here and I know they will be happy to explain things to you.

I'm sorry you are faced with this disease. This site is full of support and information. I firmly believe that knowledge is power and there is much knowledge to be obtained here. I wish you and your family the best.

Stacey


Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.


-------------------------
Emily. 23 w/CF.
*Dating Mike since 8-11-03*
*Getting married on 4-9-10*

~~~~~~~~~~~~end copy~~~~~~~~~~~~

 

[Alyssa]

To add to what lightNlife said about no such thing as mild strain of CF -- I want to clarify that doctors do refer to class 4 and 5 genes as "mild variant genes" (I'm assuming because the defect in the CFTR is more mild), so perhaps that's what you have heard.

I copied an entire post from the newly diagnosed boards that has a lot of information posted by emily -- couldn't get it to go with the inset quote box but here it is ~~~~~~~~
~~~~~~copy below~~~~~

Welcom to the site. Below, I've listed some info that Emily65Roses gave me a while back when someone had a question about mutations. Also, you can do a search and read all of the discussions here about them. Another good source of information is LightNlife's blog. She has links to all sorts of articles and information. There are a lot of well informed members here and I know they will be happy to explain things to you.

I'm sorry you are faced with this disease. This site is full of support and information. I firmly believe that knowledge is power and there is much knowledge to be obtained here. I wish you and your family the best.

Stacey


Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.


-------------------------
Emily. 23 w/CF.
*Dating Mike since 8-11-03*
*Getting married on 4-9-10*

~~~~~~~~~~~~end copy~~~~~~~~~~~~

 

[Alyssa]

To add to what lightNlife said about no such thing as mild strain of CF -- I want to clarify that doctors do refer to class 4 and 5 genes as "mild variant genes" (I'm assuming because the defect in the CFTR is more mild), so perhaps that's what you have heard.

I copied an entire post from the newly diagnosed boards that has a lot of information posted by emily -- couldn't get it to go with the inset quote box but here it is ~~~~~~~~
~~~~~~copy below~~~~~

Welcom to the site. Below, I've listed some info that Emily65Roses gave me a while back when someone had a question about mutations. Also, you can do a search and read all of the discussions here about them. Another good source of information is LightNlife's blog. She has links to all sorts of articles and information. There are a lot of well informed members here and I know they will be happy to explain things to you.

I'm sorry you are faced with this disease. This site is full of support and information. I firmly believe that knowledge is power and there is much knowledge to be obtained here. I wish you and your family the best.

Stacey


Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.


-------------------------
Emily. 23 w/CF.
*Dating Mike since 8-11-03*
*Getting married on 4-9-10*

~~~~~~~~~~~~end copy~~~~~~~~~~~~

 

[Alyssa]

To add to what lightNlife said about no such thing as mild strain of CF -- I want to clarify that doctors do refer to class 4 and 5 genes as "mild variant genes" (I'm assuming because the defect in the CFTR is more mild), so perhaps that's what you have heard.

I copied an entire post from the newly diagnosed boards that has a lot of information posted by emily -- couldn't get it to go with the inset quote box but here it is ~~~~~~~~
~~~~~~copy below~~~~~

Welcom to the site. Below, I've listed some info that Emily65Roses gave me a while back when someone had a question about mutations. Also, you can do a search and read all of the discussions here about them. Another good source of information is LightNlife's blog. She has links to all sorts of articles and information. There are a lot of well informed members here and I know they will be happy to explain things to you.

I'm sorry you are faced with this disease. This site is full of support and information. I firmly believe that knowledge is power and there is much knowledge to be obtained here. I wish you and your family the best.

Stacey


Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.


-------------------------
Emily. 23 w/CF.
*Dating Mike since 8-11-03*
*Getting married on 4-9-10*

~~~~~~~~~~~~end copy~~~~~~~~~~~~