c.1210-12T 5T mutation

[cmiller]

Hello,
My brother recently had a positive sweat test (46 years old) and his genetic screen from Johns Hopkins came back with one mutation. It says " c.1210-12T[5] [Legacy: 5T]. A CFTR mutation with vairable functional effect and clinical presentation." Does anyone here have this mutation alone? What does it mean? If I have read correctly, you can be a symptomatic carrier with only one mutation. My brother had many symptoms and was very sick; he passed away before he got these genetic screen results. I am hoping to find out as much as I can for him as he tried for so long to find out what was wrong.
Any help would be greatly appreciated. thank you. Cheri

 

[rogerdbacon]

Hello,
My brother recently had a positive sweat test (46 years old) and his genetic screen from Johns Hopkins came back with one mutation. It says " c.1210-12T[5] [Legacy: 5T]. A CFTR mutation with vairable functional effect and clinical presentation." Does anyone here have this mutation alone? What does it mean? If I have read correctly, you can be a symptomatic carrier with only one mutation. My brother had many symptoms and was very sick; he passed away before he got these genetic screen results. I am hoping to find out as much as I can for him as he tried for so long to find out what was wrong.
Any help would be greatly appreciated. thank you. Cheri

Hi,
This is my first time ever on any forum so I apologize if I am doing something wrong.
My son, age 30, just got this back from his lab results at University of Arizona Medical Center yesterday.
"They identified c.1210-12(5) (Legacy :5T) It is a CFTR mutation associated with variable clinical presentation."
He use to race motocross and was in excellent physical condition.
His symptoms came to light when deployed twice to Kirkuk Iraq Air Force Base where he was often exposed to the fumes from the Iraq Burn Pits. His second tour in 2011 he had to be medevaced out with breathing problems. The military kept trying to say he had asthma and tested him over and over for that with negative results every time. Finally after leaving the military he gets these results yesterday.
Guess I rambled on too much but I am a bit shaken up today. They just had their first, a beautiful baby girl, last week, and now these results this week.
Did your brother pass at age 46?
So sorry for your loss.
Most sincerely,
Roger

 

[findcure]

The 12T5 (5T) allele is a strong binding site for a protein called TDP-43. The carrier will probably not get CF if TDP-43 is kept low like in normal people. But if somehow the expression of TDP-43 gets higher, it will bind to the 5T site and cause exon 9 skipping.The resulting protein will be shorter and non-functional. TDP-43 can be induced by many factors, battle field being one of them. Another serious consequence of TDP-43 getting higher is the possibility of getting neurodegenerative diseases, such as ALS.