CF mutation 1898-1G>A

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anonymous

New member
Does anyone have this mutation? I have it along with deltaF508 but I can't seem to find much info on it. I want to know what mutation class it is in (I think the deltaF508 is a 2nd class mutation) but if anyone has any other information, or has the same CF genotype as me I would be grateful to hear from you.
Thanks.
Laura xxxx
 
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anonymous

New member
I have that one too. I couldn't find hardly anything on this mutation. So I'm sorry I can't answer your question. Becky in Mich
 
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anonymous

New member
Hello Laura,

My 5 year old daughter has the same two mutaitons as you deltaF508/1898 + 1G to A. I know that deltaF508 is a deletion mutation and 1898 + 1G to A is a splice mutation. Alix is severely pancreatic insufficient and has asthma and mild lung disease. How old are you? Are you pancreatic insufficient? Do you have CFRD? Do you have liver issues? Is your lung disease severe or mild?

you can contact me at stacy underline m underline ramsey at hot mail dot com if you would like. I am always trying to find out what I can about this mutation and anyone that has it. I would love any input you might have. I also have found a few other things about this mutation and would be glad to share if you would like to contact me.

My Best,
Stacy
 
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Emily65Roses

New member
Laura, it's me the Emily that has your same two mutations. Hahaha. And sorry to say, I don't know a damn thing about it. Heh. <img src="i/expressions/face-icon-small-tongue.gif" border="0">

Can you explain to me what you mean by 2nd class mutation? I didn't know the mutations had classes. I'm curious.
 
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anonymous

New member
Hi

Sorry - I only just realised there'd been some more replies to this thread.

Emily - mutations are grouped into classes according to how they occur and/or their severity.
eg class one - the cf gene is so severely mutated that the cftr protein is not even formed
class two - the cftr protein is produced but it is the wrong shape so it doesn't reach the cell membrane (it gets digested inside the cytoplasm instead)
class three - the cftr protein is formed, it reaches the cell membrane but it doesn't open/function
class four - the protein can function but does not work as efficiently as it should (people who are pancreatic sufficient have a class 4 mutation)
class five - there is a small decrease in the efficiency of the protein (people who have this are generally not thought of as actually suffereng from cf)

hope that makes sense - I wrote it from memory so don't quote me on it! LOL



Stacey - I am 18, severely pancreatic insufficient, also have asthma as well as ABPA, I don't have any liver probs as far as I'm aware, and I don't have CFRD. I would class my lungs as mod to severe... However, I have many problems caused by long term high dose steroids to treat my ABPA - including severe avascular necrosis of both knees, bouts of high blood sugars (when on high dose steroids), osteoporosis and stunted growth! I have intravenous antibiotics almost monthly.
I have to say though - I didn't have any problems until aged 9 - when I first needed steroids for ABPA. I started needing IVs at age 13.
I grow several strains of pseudo as well as staph.
Thats about it I think!

Laura xxx
 
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anonymous

New member
As long as were talking about Genes...

Can someone explain to me the whole intron thing and the splicing. I understand the typings (1-5) but want to know if/how the intron number and splicing are related. Sean has F508 which obviously is a type one but I'm curious about his other gene. It's listed as an intron 5 RNa splicing. Can anyone help me decipher?

Thanks.

BTW... This is CFHockeyMom; too lazy to log-in.
 
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anonymous

New member
That's right, DF508 is a class 2 mutation (NOT the most severe although it's the most common and causes "classic cf symptoms"). My understanding is that 1898-1 G>A is a class 1 mutation which explains the severity of your pancreatic insufficiency. For what it's worth, genotype does not predict phenotype except in the case of pancreatic sufficiency; therefore, just because these genes are class 1 and class 2 does not correlate with lung health. Hope that helps.
 
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