Hyperechogenic bowel
I am in the 14th week of pregnancy and during a trophoblast test the fetus was tested positive for the DF508 CF mutation (heterozygote carrier). I and my husband have not been tested for any CF mutations. As far as I know there is no CF history in any of our families. I was informed by the ...
3849+10 kb c / 5T
Hello, can you tell me the phenotype of the mutation 3849 + 10 kb c facing the variant T5 please. Thank you in advance. Best regards
Mutations F508del & I507del
Hello, We are the proud parents of a beautiful boy with the mutations F508 and I507. We would like to have more information on both mutations together. Our son’s disease looks more digestive than respiratory, although he already had two pseudomonas colonizations (halted by an oral cure and an ...
Mutations L206W and S1251N
Hello, I'm 26 years old and I have no symptoms of cystic fibrosis but these two mutations (discovered after diagnosis of CF in my two children). What do we know about these 2 mutations L206W and S1251N?
Mutations p.Gly542X and c.371del
Hello, Our daughter (soon 2½ years) was diagnosed to have CF following a Newborn screening test. After investigation of the CFTR gene she was diagnosed to be compound heterozygous for mutations p.Gly542X (mutation from her father) and c.371del (mutation from her mother). What do you know about ...
Hello, May I ask you whether regarding the current level of research (+ 1900 identified mutations and the importance of modifier genes) a study on the mutation and modifier genes that parents passed, would not be a source of useful information for the development of a treatment adapted to the ...
life expectation of CF nowadays
My son is born in 2015 with the classical form of CF. What is the life expectation of a CF patient born in 2015?
Negative gene sequencing and negative sweat test
Can you rule out cystic fibrosis with a negative gene sequencing and a negative sweat test? Is the sequencing reliable and able to rule out the disease in a child? Thank you very much
Intermediate sweat test
Hello, I ask myself a lot of questions after reading one of your answers to a subject. You said in this response that the sweat test should be less than 30 µmol/l. My 16-months-old daughter has CF (diagnosed at 1 month) with a DF508 mutation and another mutation of class 5 G3272-26A and a sweat ...
Human genetics
Hello, I, my husband and my daughter have been investigated for Del F 508 , Del I 507, Del TA 1677 , Del 21 kb. In my husband and my daughter (4 yrs) Del F508 have been found, nothing has been found in me. How does this influence the prognosis and further therapy? How necessary and sensible is ...
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