mutations Newly diaganosed

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Alexandria2015
New Member


Date Joined Jun 2015
Total Posts : 3
   Posted 6/30/2015 7:41 AM (GMT -6)   
Is there anyone that has the mutation 3120+1G>A and 711+1G>T and what these mutations mean?

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 6/30/2015 4:34 PM (GMT -6)   
Hi and welcome to Healingwell,

I don't know anything about these 2 specific mutations I'm thinking they're probably rarer ones.
Different mutations cause the CF gene to be faulty in different ways. So, some mutations can effect the lungs more and some can effect the guts more. However the CF gene also interects with other genes in the body so 2 people with the same CF genetic mutation can be completely different in how the gene effects them.

For example both my brother and I have DF508 as our CF genes, he can work full time, hardly picks up any infections and hasn't needed any antibiotics for over 3 years, however he has always suffered massively with his bowels and gets a lot of bowel obstructions. On the other hand, I have infection after infection, get 2-6 months between IV antibiotics and don't get too many bowel issues.

Environmental issues such as pollution, exposure to bacteria, such as early school age where people build up most of their resistances to viruses which can help them later on in life to be better at fighting off bugs. Or where there is too much exposure to funguses, pseudomonas and other bacteria which can have long term negative effects.

These things can all effect the impact on our lungs and how the cf gene might operate.
Moderator of the Cystic Fibrosis forum

Hey, I'm Gem with CF, age 29 and diagnosed at 2 years old. I'm no expert but having CF myself I've learnt a few things along the way.
Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum, Proximal Myositis, Polyarthralgia

Post Edited (Gemsi) : 6/30/2015 4:38:07 PM (GMT-6)


Wiley Coyote
Regular Member


Date Joined Jan 2015
Total Posts : 37
   Posted 7/12/2015 6:28 PM (GMT -6)   
I believe those are both splicing mutations. I am fairly sure they are milder mutations.
CF DDf508 w/ CFRD (dignosed 3 months) 43 years old, 2 kiddos
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