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My 11 day old daughter has e60x and the delta508 mutation. Anyone else?
- Thread starter Dowling
- Start date
My daughter is 18 now was born with Delta 508. It is the most serious gene thread, but also the most common and the most research focused. It gets harder as they get older, but my daughter is a freshman at the University of Alabama and living each day as full as she can. Keep hope and faith.
AleksandraKaczynska
New member
looks like calss one mutation with a stop codon - the "x" at the end
look up
http://www.genet.sickkids.on.ca/SearchPage,$Form.direct
and maybe try to read into this - where this muataion is mentioned and combined with some cf symptoms
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1773762/
however remember that genes are not everything - how cf will develop only time will show
in most survey its said that our health is effected by "
53% is the style of live
10% medical care
21% the envirment
16% genes - but all genes - not just the cf gene...
genetics - so far - are more of just a help in treating cf - and also very important in gene therapies like Kalydeco or ivacaftor- the same drug but named differently in US and Europe
try asking the question on cf europe or other countries to get information from others with the same mutation
http://www.cfww.org/cfe/
look up
http://www.genet.sickkids.on.ca/SearchPage,$Form.direct
and maybe try to read into this - where this muataion is mentioned and combined with some cf symptoms
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1773762/
however remember that genes are not everything - how cf will develop only time will show
in most survey its said that our health is effected by "
53% is the style of live
10% medical care
21% the envirment
16% genes - but all genes - not just the cf gene...
genetics - so far - are more of just a help in treating cf - and also very important in gene therapies like Kalydeco or ivacaftor- the same drug but named differently in US and Europe
try asking the question on cf europe or other countries to get information from others with the same mutation
http://www.cfww.org/cfe/
V
VAmom
Guest
My son, who is 19, has both Delta ^F508 and E60X.
Most of his problems growing up were nasal polyps and bowel obstructions, which led to a diagnosis of DIOS (Distal Intestinal Obstruction Syndrome).
The (undetected) bowel obstructions led to poor or no weight gain. When he was 12, he had a g-tube, which he kept for six years. It was the best thing we could have done for him. His weight doubled in six months. At 17, he insisted in having it removed. He has not gained any weight since removal of the g-tube.
His lung function was excellent until the age of 16 (pneumonia, colonized pseudomonas, and I believe poor compliance in doing his required daily treatments). His lung function is now at about 79%.
The info that I have found regarding the E60X mutation is that it frequently is associated with stomach and bowel issues.
I wish the best for you and your baby daughter.
Most of his problems growing up were nasal polyps and bowel obstructions, which led to a diagnosis of DIOS (Distal Intestinal Obstruction Syndrome).
The (undetected) bowel obstructions led to poor or no weight gain. When he was 12, he had a g-tube, which he kept for six years. It was the best thing we could have done for him. His weight doubled in six months. At 17, he insisted in having it removed. He has not gained any weight since removal of the g-tube.
His lung function was excellent until the age of 16 (pneumonia, colonized pseudomonas, and I believe poor compliance in doing his required daily treatments). His lung function is now at about 79%.
The info that I have found regarding the E60X mutation is that it frequently is associated with stomach and bowel issues.
I wish the best for you and your baby daughter.
chicagocubsmom
New member
My 18-month old son has DDF508 and E60X as well. We have found less than half a dozen people online so far with the mutation. Let me know if you have other questions. And congrats on your beautiful baby girl!
chicagocubsmom
New member
Just FYI, the Sick Kids URL above is VERY old, I'm not sure if anyone even updates the website anymore and it will just give you a hit on one young female patient with E60X that passed away at age seven before 1991 - pretty depressing and not accurate for today's CF patient! The better website to check is the new database at http://www.cftr2.org/, which identifies about 150 people so far with one copy of E60X and about 100 people with the exact DD508/E60X combo.
Aboveallislove
Super Moderator
Mom,
That is great! Please don't though start pushing food--it will back fire! Trust her eating just like you did with the other two. The enzymes will take care of the rest! Also, asked about the mutation and got this response. It is pretty dense and even though I'm pretty well versed for a nonscience type, i don't follow it all. BUT the good news is there is hope that Kalydeco could help with the second mutation. She is too young for the doctors to even consider doing off-label, but it might be that by the time she is 2 that Kalydeco will be approved for 2 year olds and that it might make sense to try then. Just wanted you to see though that the meds out there have such promise.
hugs and prayers.
E60X creates a stop codon very early on, near the beginning of the CFTR protein. There are a couple of really interesting papers that suggest that even if the beginning of the CFTR is cut off, there are 'alternate start codons' that create a second protein comprised of (most) of the rest of the CFTR. One of these papers demonstrated, in vivo, that in the mutation, c.120del23, there is a protein created that trafficks to the cell surface.
http://www.ncbi.nlm.nih.gov/pubmed/19910674
http://www.jbc.org/content/270/20/11941.long
The mutation in c.120del23 starts at nucleotide 120.
The mutation in E60X occurs at 178.
There are about 4,443 nucleotides that make up the CFTR protein.
That is great! Please don't though start pushing food--it will back fire! Trust her eating just like you did with the other two. The enzymes will take care of the rest! Also, asked about the mutation and got this response. It is pretty dense and even though I'm pretty well versed for a nonscience type, i don't follow it all. BUT the good news is there is hope that Kalydeco could help with the second mutation. She is too young for the doctors to even consider doing off-label, but it might be that by the time she is 2 that Kalydeco will be approved for 2 year olds and that it might make sense to try then. Just wanted you to see though that the meds out there have such promise.
hugs and prayers.
E60X creates a stop codon very early on, near the beginning of the CFTR protein. There are a couple of really interesting papers that suggest that even if the beginning of the CFTR is cut off, there are 'alternate start codons' that create a second protein comprised of (most) of the rest of the CFTR. One of these papers demonstrated, in vivo, that in the mutation, c.120del23, there is a protein created that trafficks to the cell surface.
http://www.ncbi.nlm.nih.gov/pubmed/19910674
http://www.jbc.org/content/270/20/11941.long
The mutation in c.120del23 starts at nucleotide 120.
The mutation in E60X occurs at 178.
There are about 4,443 nucleotides that make up the CFTR protein.