DeltaF508 and p.Arg75ln mutation???

[mom2my3kids]

DeltaF508 and p.Arg75Gln mutation is the mutation identified for my daughter Dakota who is 5yrs old. Does anyone else know this mutation? What are anyone's experience medically etc with this? I have posted for Ambry but no one has responded. Thank you!

Jana

 

[GenH]

Hi Jana, the Arg75Gln mutation is also called R75Q (R=arginine, Q=glutamine). The CFTR2 database suggests that it is likely not to cause CF, however as I mentioned with your other post it is hard to say how the genes will interact. Has she had a sweat test?

http://www.cftr2.org/mutation.php?view=general&mutation_id=92

 

[Printer]

Are you going to an Approved CF Center and are you seeing a CF Specialist?

Bill