Topics

G542X
My child has cystic fibrosis with the p.G542X and c.4375-2A> C mutations. Are both mutated alleles expressed in cells or does one dominate the other mutation? Please, what is the clinical expression of this combination in the medical database if available? Thank you in advance for your reply.
07.01.2014
CF diagnosis in adulthood
Dear, I recently got the diagnosis of CF at the age of 25. After performing a sweat test (result: gray area) and a DNA test, I seem to be genetically homozygous F508del. With this form you would expect serious complaints. Given the late diagnosis, I only suffer from mild CF. Here is my ...
23.12.2013
till what can you speak about
I am 48 years old and know since last August that I suffer from CF, 5T/9T heterozygous and F508del heterozygous. Before that period, I had according to several pulmonologists, COPD GOLD class IV. Since 2003 I go to pulmonologists. My FEV1 was 2.36 L (59 %), saturation at rest 94%, 79% at max ...
23.12.2013
Mutation T338I
Hello My son aged 22 months was diagnosed three weeks after the postnatal test. He has the G542X and T338I mutations. The geneticist we encountered explained that this was a rather mild form of CF. Our son has five airway clearance sessions per day, salt and vitamins ADEK, no pancreatic enzymes. ...
23.12.2013
Transmission of the defective gene
My granddaughter has cystic fibrosis. Would it be possible that me, her paternal grandmother, I transmitted it because I'd be carrier of the defective gene that I would have transmitted it to my son? Thank you in advance for your answer.
23.12.2013
CF Screening
Hello, I’m writing to get some information about CF gene screening. My girlfriend has a family relative with CF and as far as I’m concerned I’m not aware about such a case among my relatives. It doesn’t prevent us from having a chance to have a child with CF if we are both carrier. In ...
17.12.2013
Combination of mutations and impact on the child
My husband carries the DF508 mutation and the normal genotype 9T/9T/. I carry in heterozygote status the allele TG11 - 5T at intron 8 of the CFTR gene as well as the normal genotype 5T/7T/. My son carries the allele TG11 - 5T at intron 8 and is characterized as a carrier of a mild CF mutation. What ...
17.12.2013
Hyperchogenic bowel
I am 39 years old and mother of a 20 month old boy by IVF. The test for CF was negative. Today I am 23 weeks pregnant and after the second level ultrasound a hyperechogenic bowel was found. My doctor recommended amniocentesis. Is the hyperechogenic bowel on its own an indication for Down ...
17.12.2013
Modifier genes
Hello, could you tell me what are the cystic fibrosis modifier genes? Do we know how to identify them if necessary? If yes, could you give me some examples of modifier genes? Thank you
16.12.2013
Cystic Fibrosis
Hello, after a pancreatitis, my 10- year-old son has been diagnosed with cystic fibrosis. He never had bronchitis. Sweat tests values are 55 and 50. The N1303K mutation was identified. His lungs, will they necessarily be damaged? Can people live with pancreatic insufficiency? Thank you very much ...
09.12.2013
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