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F508 and M265R
Looking for any others with M265R gene mutation it is not in the database. I am 33 and just diagnosed this year as atypical CF I have had a lot of problems with my pancreas. I don't have a clue what may develop later in life I do have extra mucus and some problems with sinuses and bronchitis in my life. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - September 22, 2014 Category: Respiratory Medicine Authors: mommof2b1 Tags: DNA and Mutations Source Type: forums

Newborn has 2 mutations-I1366T & DelF508..HELP?
So I received a call that my newborn has two mutations today-I1366T & DelF508. Her IRT was 97.99, and newborn cutoff is 67. I was told that they would refer her for the sweat test at Children's Hospital and I'll be hearing from her Dr and C.H. soon. *crickets* Soooo....in the MEANTIME, what am I supposed to think? Of course, I googled it and the information I got was "if baby tests positive for 2 mutations, baby most likely has C.F.". We have 5 children--#3 is a carrier of DelF508. Not sure about 1, 2 and 4. I never got any information after #4's birth so I assume she is not a carrier... Is it possible ...
Source: Cystic Fibrosis DNA and Mutations Forum - September 17, 2014 Category: Respiratory Medicine Authors: Mama2Five Tags: DNA and Mutations Source Type: forums

C.777delT & DF508
I think my son is the only one with this combination. Anyone else have c.777delT? He was diagnosed at birth with MI & sweat test of 112. He's 14 yrs old, no hospitalizations or major lung complications so far. Main issues are with digestion (since birth) & nasal polyps (onset age 12). The results of this second mutation read - c.777delT (frameshift): Not a previously reported CFTR to our knowledge but predicted to be deleterious. I'm assuming that means Class 2 but with the mildness of his disease so far it leads me to believe it's not? thoughts? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - September 14, 2014 Category: Respiratory Medicine Authors: aprung Tags: DNA and Mutations Source Type: forums

Still looking for others with 124del23bp
Anybody else out there? Seems to be an Azorian mutation from my husband's side...also goes by the nomenclature c.-9_14del23 (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - August 18, 2014 Category: Respiratory Medicine Authors: ccsalema Tags: DNA and Mutations Source Type: forums

F508 & d110h
Hi, I am new to this site. Curious if anyone has f508 & d110h? My daughter is 15 months and was diagnosed on newborn screening. My husband and I have dealt with this for over a year, but still cannot accept it. We feel as though she has not one symptom.....which is a good thing.....but makes it hard to accept something we dont see. We were told that from what they know it should be mild. Wish we could see into the future! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - July 22, 2014 Category: Respiratory Medicine Authors: Jeannie85 Tags: DNA and Mutations Source Type: forums

Anyone with DF508/R1162L
Hi, im new to the site and from London, UK. I have CF double DF508. I have a 11 week old daughter whose cord bloods has come back having the above mutation df508/r1162l. Its a very rare mutation here in the UK and wondered if any one in America can shed some light what to expect? Thanxs (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - July 15, 2014 Category: Respiratory Medicine Authors: Amy86 Tags: DNA and Mutations Source Type: forums