Topics

Rare mutation
Hello, I am the mother of a little girl of three years, compound heterozygous for mutations F508del and T604i. I want to know what class of mutations T604i belong? Here the only information we know. T604i is located in exon 13 (substitution C> T at nucleotide 1943 resulting in the substitution ...
07.05.2012
Rare mutation - R709X
Hello, When my CFTR gene was sequenced the nonsense-mutation R709X (c.2125C>T) was detected. Furthermore, the molecular genetic findings of the Medical School Hannover (MHH, Germany) states that this mutation in combination with the 3272-26A>G mutation is most likely "compound ...
07.05.2012
CF mutation
Hello, I wonder if the CF mutation 3417 from A to T, can cause the disease CF?
03.05.2012
CF yes or no?
Dear, I am a 35-year old man. Because we had problems starting a family, I had tests done. I seem to have F508del and R117H in combination with 7T/gT. Whether I do have a vas deferens? Different answer by different urologists, from ‘not present’ to ‘one sided absence’. In any case, I do ...
03.05.2012
CF and healthy carrier
What is the concept of healthy carrier?
24.04.2012
Aberrant Splicing Mutations and Ataluren
My 14 year old daughter has the two mutations DF508 and 621 + 1G > T. It is my understanding that the 621 + 1G > T mutation causes aberrant splicing of mRNA. How is that different from a nonsense mutation? Currently, I see that Ataluren trials are targeting nonsense mutations in Class I.  ...
24.04.2012
ΔF508/R553X
Dear expert team, Could you please help me understand a paper that I found about the above mentioned genotype which is the genotype of my 7-month old daughter. The article "Early Detection of Lung Disease and Its Association with the Nutritional Status, Genetic Background and Life Events in ...
17.04.2012
Combination of two mutations
Dear expert team, I am a carrier of the F508del mutation, my husband is a carrier of the 5-T variant in the CFTR gene. My brother has CF. Our son was born two-and-a-half years ago in the 36th week. Apart from being very small and lightweight due to premature birth, he does not show any signs of ...
22.03.2012
c.3773_3774insT (p.Leu1258PhefsX7)
Our son has the above mentioned mutation as well as Delta F508. The latter is known to me but for the one that is mentioned in the subject line I could not find any information. Considering these mutations, what can we expect (concerning the course of the disease and the medication)?
22.03.2012
R347P mutation
There was a mistake in my earlier question. My son’s mutation is Delta F 508 / R347P. We would appreciate it if you could provide some information on research findings concerning this. Thank you.
22.03.2012
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