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View Full Version : Desperately looking for others with delta f508 and s1235r



11-13-2014, 11:41 PM
Would love to talk to others with my daughters gene mutations! Please get back to me either on here or by email [email protected] thanks

triples15
11-14-2014, 12:32 AM
Would love to talk to others with my daughters gene mutations! Please get back to me either on here or by email [email protected] thanks

Hi and welcome Momma!!

I'm sorry, I don't have any knowledge about s1235r, so hopefully others will. However, I wanted to give you a link to another thread here where it is discussed..

http://forum.cysticfibrosis.com/threads/21161-S1235R?highlight=s1235r

Hope that helps and take care!

Autumn 34 w/cf

Edited to add that I just did a little more searching and noticed that one of our moderators, Littlelab has s1235r. He will almost certainly have some good info for you when he sees this. ;)

stephen
11-14-2014, 10:32 AM
kjmomma82,

The CFTR2 website database has some information that my be helpful to you.

http://www.cftr2.org/mutation.php?view=general&mutation_id=51

(Using the web site may be a bit confusing at first but it contains a lot of useful information based on actual patient data and it becomes easier to use after a while.)

The following is taken directly from their website:
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Summary for S1235R mutation:

This mutation that DOES NOT cause CF when combined with another CF-causing mutation.
There may patients in the CFTR2 database with this mutation who have CF, but this mutation is NOT THE CAUSE of their CF.
There are 54 patients with this mutation in the CFTR2 database.
Based on:

clinical information obtained from these patients,
laboratory experiments performed on this mutation, and
analysis of groups of healthy individuals that carry this mutation,

we conclude that this mutation does not cause CF when combined with another CF-causing mutation.

Most individuals with this mutation (combined with another CF-causing mutation) will be healthy. A small number of individuals may develop mild symptoms or be diagnosed with a CFTR-related disorder (CFTR-RD; see FAQs), but symptoms are not expected to be severe enough to meet the definition of CF. Some individuals with a CFTR-RD may be represented in the CFTR2 database because they are followed by CF clinics. In this case, S1235R MAY be related to their symptoms. However, it is unlikely that these patients meet the criteria for a CF diagnosis.


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You can also see some statistics for patients with F508del and S1235R.

I hope this, and the site, provides some of the information you are looking for.

roeann
11-14-2014, 10:23 PM
I just posted this on another thread (sorry if you read it already) - Several studies indicate that S1235R is "not associated with typical CF but is associated with pancreatitis" (1).

(1) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102440/Several studies indicate that S1235R is "not associated with typical CF but is associated with pancreatitis" (1).

(1) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102440/ - See more at: http://forum.cysticfibrosis.com/threads/21161-S1235R/page7#sthash.MnYlgwlo.dpuf