Hi
I found some information on the mutation R297Q. It states that it is a rare polymorphism and when paired with df508 on the opposite chromosome does NOT cause disease.
here is a link: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8680407&dopt=Abstract
">http://www.ncbi.nlm.nih.gov/en...7&dopt=Abstract
</a>
i also found some info from sickkids on the other mutation r74q which sounds like it could possibly be disease causing:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1082
">http://www.genet.sickkids.on.c...xternal?sp=1082
</a>
there has been one person who had chronic pancreatitis and also had this mutation and no other cf mutations. so this one could be causing trouble for your son????
Good luck with you pulmo visit. I hope it will be helpful for you and that your son will get the treatment he needs. It sounds like your son might be a good canidate for the nasal potential difference test if that is available. Without remembering your son's symptoms (other than constipation) which in the case CF really does not have a unique treatment (as opposed to other causes of constipation), I would suggest that they go ahead and treat him as if he has CF or at the very least to moniter him closely in case he develops symptoms of CF.
Again good luck and let us know how it goes.
PS... i just saw in the update on the sickkids report that the other chromosome for the person with chronic pancreatitis had your child's other mutation R279Q. so i guess that person did not have CF but did eventually develop chronic pancreatitis...? I have heard that some CF carriers are more susceptable to chronic pancreatitis but i think it is mostly a hypothesis. Anyway i am sure your doctor will much more helpful than me. Hopefully anyway!
I found some information on the mutation R297Q. It states that it is a rare polymorphism and when paired with df508 on the opposite chromosome does NOT cause disease.
here is a link: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8680407&dopt=Abstract
">http://www.ncbi.nlm.nih.gov/en...7&dopt=Abstract
</a>
i also found some info from sickkids on the other mutation r74q which sounds like it could possibly be disease causing:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1082
">http://www.genet.sickkids.on.c...xternal?sp=1082
</a>
there has been one person who had chronic pancreatitis and also had this mutation and no other cf mutations. so this one could be causing trouble for your son????
Good luck with you pulmo visit. I hope it will be helpful for you and that your son will get the treatment he needs. It sounds like your son might be a good canidate for the nasal potential difference test if that is available. Without remembering your son's symptoms (other than constipation) which in the case CF really does not have a unique treatment (as opposed to other causes of constipation), I would suggest that they go ahead and treat him as if he has CF or at the very least to moniter him closely in case he develops symptoms of CF.
Again good luck and let us know how it goes.
PS... i just saw in the update on the sickkids report that the other chromosome for the person with chronic pancreatitis had your child's other mutation R279Q. so i guess that person did not have CF but did eventually develop chronic pancreatitis...? I have heard that some CF carriers are more susceptable to chronic pancreatitis but i think it is mostly a hypothesis. Anyway i am sure your doctor will much more helpful than me. Hopefully anyway!