View Full Version : Mutation Database

01-26-2015, 11:56 AM
Afternoon -

I was wondering if anyone knew of an updated mutation database? The CFTR 2 website hasn't been updated since April 2012...that's almost 3 years ago! I posted this question on a facebook group, but thought I would try here.

My daughter has a rare mutation w/ varying consequences and only 4 people in that database with her exact pair. There should be more updated information over a 3 year time period, especially with the newborn screening process. Hoping to find it.

I'm just...desperate for more information I guess.

Thanks, in advanced

01-26-2015, 03:13 PM
Hey Lauryn,
I'm wondering if you could try contacting them. I thought I saw contact info there. I did search pubmed.com for your daughter's mutation and nothing current, but a few older ones with one indicating pancreatitis (it was a study on that and just noted the mutations of those).
I'm so sorry how hard this must be for you.
I guess on the "good news" front, there must be some residual function so if they decide it is CF-causing, she'll be a great candidate for the VX661-Kalydeco combo which has shown great results for those with 551 and Kalydeco with residual function, so together she'll be in great shape.

01-26-2015, 09:09 PM
Thanks aboveallislove. I have read more than my fair share of medical publications trying to learn as much as possible about f1052v. Causes CF in some, but not all. But you're right, there is some residual function and it causes atypical CF. Thanks for the reply - you warmed my heart. I'll see about contacting the database!

02-02-2015, 03:58 PM
Just wanted to update anyone who reads this thread, that I did contact the CFTR2 database POCs and they responded! They are anticipating to release an update in 2015! Maybe I'm the only crazy mama who is excited...but just in case I thought I'd share!

02-02-2015, 04:27 PM
Oh, that's great! Were they able to give you any specific info in the interim?

02-07-2015, 05:26 PM
Which mutations does she have? I know my daughter has 2 less common ones for here in the US.
She has M1101k and 2184delA

02-07-2015, 08:21 PM
My daughter has df508 and f1052v. They said summer of 2015 and didn't give any information for the interim 😣

03-17-2015, 04:10 PM
I just want to commiserate. My son has df508 + one of varying consequence and there are only 5 in the database with this combo so I'm also dying for more information. I can't find anyone anywhere that has his second gene. I just wish I knew more.