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