DNA Guilds Introduction

[Imogene]

Welcome to our newest feature: DNA Guilds.

Thank You! 150 of you agreed to "hear more" about DNA Guilds in our latest Survey.

We have over 50 mutations represented in our survey:

F508del,

3849+10kbC->T

R668C

L558S

I1027T

R117C

621+1G->T

L206W

S489X

N1303K

2789+5G->A

N1303K

R117H

N1303K

G542X

D1152H

R347P

1461ins4

R347H

1461ins4

5T

2184insA

R75Q

R560T

3272-26A->G

S492F

621+1G->T

3120+1G->A

N1303K

P750L

Y1092X

3041-15t>g

G551D

I507del

Q220X

M470V

1898+1G->A

2585delT

N1303K

2183AA->G

394delTT

2789+5G->A

E585X

R553X

S1251N

R1162X

Q552X

R1162X

W1282Xa

1898+1G->A

R117H

G542X

E831X

W1204X

R553X

3849+10kbC->T

R5443X

This is a place we can begin to compare notes and see where we want to take it from here!

Salt and Light,
Jeanne

 

[ccsalema]

Hi! You forgot my son's really rare one: 124del23bp or, with non-legacy name, c.-9_14del23

Thanks,
Christie

 

[MyBabyCeline]

Hi I'm not really sure if this is what we're supposed to do here but I'll be telling you about our experience with CF for the last couple of years.

My daughter was born on december 20th 2010 and was diagnosed through newborn screening. She did not and still does not show any symptoms. The initial genetic tests showed she had 2 mutations: 2183aa>g and F693L (which was considered a variant). Further tests were done because the genetic counselors were not convinced this set of mutations would explain her situation and lack of symptoms, and as expected they found out that she doesn't have the F693L and instead has 3041-15t>g and is negative for the 5T variant (so she has 2183aa>g and 3041-15t>g on separate chromosomes, ie. one from each parent). I don't know how such mistake could have taken place, but I'm not at all surprised considering the first test was performed in our home country Jordan, where genetic testing is not that well advanced and only one lab in the country could do it.

She is now a healthy 25 month old. She never had any infections or GI problems. We were in the US in October 2012 where we had her fully checked and where the genetic counselors discovered the mistake.

The genetic counselors' final notes regarding her mutations were as follows:

2183aa>g is a known CF causing mutation which when combined with another non-working change in the CFTR gene would cause cystic fibrosis.

3041-15t>g is a variant and based on reports from the medical literature and CF databases its classification is not conclusive; however, as she has no clinical findings of CF, the presence of this variant in her is judged to be non disease-causing. This variant; however, has been associated with CAVD when present with a non-working CFTR change on the other chromosome. So we, as a couple, are at risk of having a boy with CAVD in the case of any future pregnancy. This risk is calculated as 1/4 (the risk that each parent passes on the abnormal CFTR allele) x 1/2 (the chance that the pregnancy is a male).

Hope you all find this helpful.

 

[stephen]

As many of you may already know, there is a website, CFTR2.org, that contains quite a bit of data on CF mutations. The site lists The Cystic Fibrosis Foundation, John Hopkins Medicine, and Sequenom CMM on its page headings.

As they state on http://www.cftr2.org/index.php

“CFTR2 is a website designed to provide information about specific cystic fibrosis (CF) mutations to patients, researchers, and the general public. For each mutation included in the database, the website will provide information about:

· Whether the mutation causes cystic fibrosis when combined with another CF-causing mutation, and

· Information about the sweat chloride, lung function, pancreatic status, and pseudomonas infection rates in patients in the CFTR2 database with this mutation. “

The data comes from “national CF registries and large CF clinics from around the world”.

Of the apparent 39,000 people in the data base, 29,018 have at least one copy of F508del. It is the most common mutation. What I found quite surprising is that only 1651 people have the second most common mutation, G542X. It is therefore not too probable that if we do not have a copy of F508del, there will be someone else whose mutations matches our.

In any event I would highly recommend visiting the CFTR2 website. It can be very informative.

 

[brandonalbert]

I either missed it or you need to add the mutation V520F to the list please

 

[sabrina77]

I am a 26 year old female with Cystic Fibrosis. I have double Delta F508. I am also a cancer survivor (7 Years)! I am runner which is my main mode of airway clearance. I am also a quarter Tlingit Indian from Alaska. Currently my FEV1 is around 92%.

 

[Simba15]

you forgot my R334W

 

[LittleLab4CF]

What the heck. I just had the whole banana genetic test and if you want to add heterozygous S1235R presenting "mild" puminary impact and pretty bad pancreatic/GI presentation. According to articles sited in my report it can present full blown CF in a single copy genotype. My genetic test included the kitchen sink listing about 1200 mutations that aren't even being studied yet. In total about 3300 CFTR anomalies were tested for and nothing other than a 7T, 7T polymorphism.

LL