Anyone with DF508/R1162L

[Amy86]

Hi, im new to the site and from London, UK. I have CF double DF508. I have a 11 week old daughter whose cord bloods has come back having the above mutation df508/r1162l. Its a very rare mutation here in the UK and wondered if any one in America can shed some light what to expect?

Thanxs

 

[WildCherry]

Hi! My son Evan was found to have DF508 through newborn screening and a subsequent full genetic screen found R1162L. In 2012, when he was born, R1162L was classified as having an "unknown clinical significance" so we were followed by a CF clinic in Philadelphia twice a year. We thought we'd be in the "limbo" status forever but as of July 2013 CFTR2 database reclassified it as NON disease causing when they updated a list of mutations that had unknown or varied significance. It does say in the description that it's possible there could be slight CF-like symptoms that show up with this mutation but would probably never be bad enough to be diagnosed as CF. Evan had a normal sweat test, shows no signs or symptoms of anything out of the ordinary. So we are no longer followed by the clinic and he's considered just a carrier. I have also been in contact with a woman in Poland who has a son with this gene combo and he's fine as well although I'm not sure what their clinic decided to do since I haven't heard from her since the mutation update. Hope this helps a little!

http://cftr2.org/mutation.php?view=general&mutation_id=156

 

[alene]

Hello! I have the R1162L, and both my daughter (2 years old) and son (four months old) have it. My husband is British and he carries the classic CF gene. My daughter was given the sweat test and nothing was abnormal. She has no CF symptoms in the slightest. My son, although carrying the same combo, wasn't even given the sweat test because, as WildCherry wrote, it has been classified as non-disease causing very recently. It might cause a mild onset of symptoms, like cough or sinusitis, but not anything huge.
My genetic counselor told me, however, that R1162L male carriers may have a natural infertility due to the absence of a vas deferens. In these cases, sperm could be collected from the male carrier and a female partner could be fertilized, so it's not that huge a problem.

 

[WildCherry]

Alene - Glad to hear that both your kids are doing well. Sometimes I fear that the new classification is wrong and at times still worry when he gets a cold. That is interesting information about the male carriers. We had Evan checked at a pediatric urologist last year before they reclassified the mutation and thankfully he was found to have both vas deferens.

Hello! I have the R1162L, and both my daughter (2 years old) and son (four months old) have it. My husband is British and he carries the classic CF gene. My daughter was given the sweat test and nothing was abnormal. She has no CF symptoms in the slightest. My son, although carrying the same combo, wasn't even given the sweat test because, as WildCherry wrote, it has been classified as non-disease causing very recently. It might cause a mild onset of symptoms, like cough or sinusitis, but not anything huge.
My genetic counselor told me, however, that R1162L male carriers may have a natural infertility due to the absence of a vas deferens. In these cases, sperm could be collected from the male carrier and a female partner could be fertilized, so it's not that huge a problem.