Guest guest Posted June 12, 2003 Report Share Posted June 12, 2003 My daughter's genetic test revelaed that she has two different mutations. She has the delta F-508 and the G542X. Can anyone tell me anything about the G542X? Is there a tendecy to have more digestive problems than respiratory or vice-versa? Just curious. Katy Mom to Austin almost 4 w/o CF & Piper 11 months w/CF Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 12, 2003 Report Share Posted June 12, 2003 has the G542X and the G85E, and has been extremely fortunate. He has chronic sinusitus, chronic constipation, and reflux. He does not take any enzymes right now, but does take 15 cc of MOM daily, and 15 cc of Colace and 1 tbs of Miralax prn. I hope this helps ) Deana Mom to 12 ncf and 6 wcf Gene mutation question > My daughter's genetic test revelaed that she has two different mutations. She has the delta F-508 and the G542X. Can anyone tell me anything about the G542X? Is there a tendecy to have more digestive problems than respiratory or vice-versa? Just curious. > > Katy > Mom to Austin almost 4 w/o CF & Piper 11 months w/CF > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 12, 2003 Report Share Posted June 12, 2003 I have found this site helpful for mutation questions. http://www.genet.sickkids.on.ca/cftr-cgi-bin/MutationTable Zach has G551D and K710X. The doctors tell me that Zach should have a " mild " case of CF because he does not have a copy of DeltaF508 but he was born with a meconium ileus which is a sign of severe CF. Zach has never had any breathing problems. Even being born 9 weeks premature he was born screaming his head off. He is not on any inhaled medicines. He was diagnosed 3 months ago because he does have a lot of digestive problems. We are having trouble adjusting his enzymes and he is already on Pepcid for reflux. Sara - mommy to Zach 16 months > My daughter's genetic test revelaed that she has two different mutations. She has the delta F-508 and the G542X. Can anyone tell me anything about the G542X? Is there a tendecy to have more digestive problems than respiratory or vice-versa? Just curious. > > Katy > Mom to Austin almost 4 w/o CF & Piper 11 months w/CF > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 12, 2003 Report Share Posted June 12, 2003 Hi Katy, You know, I wonder, probably everybody else too, how well can anyting be predicted from the combinations of the different mutations, I recently met a lady thirty something double delta f508, and she has never had any major problems, basically pretty healthy. Just an anecdote... Love to all, mom of a 9 pcf, Venanzio 6 nocf, Pepe 3 nocf > My daughter's genetic test revelaed that she has two different mutations. She has the delta F-508 and the G542X. Can anyone tell me anything about the G542X? Is there a tendecy to have more digestive problems than respiratory or vice-versa? Just curious. > > Katy > Mom to Austin almost 4 w/o CF & Piper 11 months w/CF > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2003 Report Share Posted June 13, 2003 Katy writed: My daughter's genetic test revelaed that she has two different mutations. She has the delta F-508 and the G542X. Can anyone tell me anything about the G542X? Is there a tendecy to have more digestive problems than respiratory or vice-versa? Just curious. Katy, I think I can tell something about the G542X mutation (excuse me for my english, I am spanish): Spain is the country were this mutation has the highest rate in the people with CF: I don't remember exactly but is about this: in other countries the incidence is 2%, in Spain 5% (the DF508 is about 70% in both). In South America the rate is also high because of the spanish origin of many people, and is high too in other european countries as Italy or Greece. Also in Israel. Some studies in genetical population have concluded that this distribution coincides with the places were phoenicians had more influence in his time. So is very possible that the first carrier of this mutation were a phoenician. (Similar studies affirm that DF508 has its origin, maybe 10.000 years ago, in a person from the north of Europe) I have a 12 years old daughter with CF (and a 15 y.o. boy without). She is DF508/G542X. Her symptoms are the usual: pancreatic and pulmonary affectation basically, more or less at the same rate, I think. But till now she is carrying it very very well!!! Salva Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2003 Report Share Posted June 13, 2003 She has the delta F-508 and the G542X. Can anyone tell me anything about the G542X? Check Ambry's website. They have quite a few references by mutation. http://www.ambrygen.com/sendsamples.htm jan Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2003 Report Share Posted June 13, 2003 > > Zach has G551D and K710X. My son has a G551D mutation as well. It is the one of the most common mutations after the F508. jan Quote Link to comment Share on other sites More sharing options...
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