C.777delT & DF508

A

aprung

New member
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?
 
A

alegris

Guest
I'm in a similar situation as your son. I have a 3396delC mutation, so also a frameshift, and I'm currently the only one documented as having this mutation. I thought all frameshifts were Class 1 mutations??
I would say my CF is also somewhat on the mild side. I'm 32 years old, was diagnosed when I was 8, haven't been hospitalized since I was diagnosed. This disease is so variable I try not to read too much into the mutation classes. But glad to hear your son is doing well!
 
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