Topics

H199Y mutation
Hello, my daughter born in 1995 has a H199Y mutation not listed in one of the four mutation classes (confirmed by doctor and scientist of the French CF association). How is this possible and how to know in this case if one of the latest treatments and future developments will be of ...
05.08.2015
Carrier of a rare mutation
Hello, Following a family tragedy (the death of my nephew at one month of life because of a rare and serious cystic fibrosis. My sister and her spouse are carriers of a rare gene...). For myself I conducted genetic tests. It turns out that I'm carrying, like my elder sister, a CF gene (which is ...
05.08.2015
P5L
Hello, I have a child with N1303K mutations and P5L, he is 2 years and so far has no symptoms of the disease. Have you heard about this rare mutation P5L? Thank You
05.08.2015
Symptoms of rare mutations in our baby
My husband and I are both carriers of a CF mutation and I'm pregnant. We were told, there is a 25% chance that our baby could inherit our two mutations and we want to know what symptoms the child may have if this is the case. My F508del mutation is common (with R668C variant, which should not be ...
01.08.2015
Amniocentesis
Is always tested for CF when doing an amniocentesis [In Germany]?
28.07.2015
Can one sibling have an atypical CF and one sibling a classical one?
Dear ladies and gentlemen, we have 2 sons, the older one is 2.5 years old, the younger one is 5 months old. Our older son has a massive failure to thrive, he weighs with his 2.5 years only 9 kg. As he is a former prenatal baby with a half-side paresis, the physicians thought the reason for this ...
19.07.2015
Only mother is carrier, is CF now excluded?
At the 20-weeks ultrasound echodense intestines were seen. Research has been done whether my partner or myself have the CF mutation. Yesterday, after 2 weeks of uncertainty, we had the reassuring call. I indeed seem to be a carrier and my partner not. As I understand CF is now excluded, but they ...
19.07.2015
Intron 8 7t/7t Exon 13 D727y
Dear Sir or Madam, My 10-year-old daughter (CF) was tested in 2009 because she often had abdominal pain with diarrhea and also respiratory infections and bronchitis. Our pediatrician sent us to the CF outpatient department of the University Hospital Leipzig [Germany]. A sweat test was done ...
07.07.2015
Μutation combined with polymorphism
I am 14 weeks pregnant and I have a 4 year old son. During the genetic testing I was examined for 90% of the CF mutations and I was found to carry: c.1584+12T>C (rs193922502), along with the non pathological polymorphisms p.V470M (rs213950,c.1408G>A). My husband was detected to carry the ...
12.06.2015
polymporphisms and mutations
I would like to ask what is the difference between a polymorphism and a mutation. Can a polymorphism, or a mutation, cause CF on their own? Can a person have more than 2 polymorphisms or mutations? Thank you!
12.06.2015
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