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genetics
I underwent DNA testing and F508del/IVS8-5T+(TG)12 mutations was detected, which was probably a direct cause of azoospermia caused by CBAVD. Beside "the lack of seminal vesicles and distal parts of spermatic ducts, which were not visualized in USG", there are no clinical symptoms of the disease. ...
09.11.2010
Mild/atypical cystic fibrosis
Dear expert team, our daughter was diagnosed with the R553x/IVS8-5T-TG12 mutations. QUESTION: Is there a difference between atypical and mild cystic fibrosis? Many thanks.
09.09.2010
Slight CFTR dysfunction
Hello, Many thanks for your answer concerning the R553x/IVS8-5T-TG12 mutations. [Comment: this refers to the question/answer pair “Atypical/mild cystic fibrosis” submitted in April, 2010.] Among other things, you told me that one has to reckon with slight CFTR dysfunctions with these ...
09.09.2010
F508del mutation – other mutations possible?
Hello, A gene test my daughter had done returned homozygous F508del (codon507/508-CTT). The test report further says that the MLPA analysis did not show any hint of a deletion of the CFTR gene and that the assumed homozygosity of the above mutation (e.g. as opposed to a compound heterozygosity ...
07.09.2010
Physical symptoms with mild mutation of the CFTR gene
I (male, 30 years old, central-European descent, 170cm, 71kg) have azoospermia, which was explained by evidence of a presumed compound heterozygous combination of the F508del and R117H mutations. More precisely, the statement says that “the patient is heterozygous for the IVS8-7T and the IVS8-9T ...
07.09.2010
Genetic analysis – interpretation
Hello, our six-month-old daughter was diagnosed with CF a while ago. My husband and I have taken a gene test which returned the following result. The following molecular genetic result has been determined for our daughter: heterozygous mutations delta F508 (exon 10)  from me, and G542X ...
07.09.2010
In cis / in trans
Hello, what does it mean if mutations were found in cis or in trans? Many thanks. Kind regards C.M.
07.09.2010
Spontaneous mutations
Hello, As I said before, our daughter has been diagnosed with atypical cystic fibrosis (CF). Following this diagnosis, we did a gene test and it turned out that only one of us is a gene carrier. My questions: how frequently do spontaneous mutations occur? The human genetics laboratory ...
07.09.2010
Ν1303 mutation
I am a carrier of the N1303 mutation and my wife the S912X, which is considered an extremely rare mutation. My wife is at her 6th month of pregnancy, and we have been told that the fetus carries both the CF genes and has CF. We have searched and are fully aware of the situation. Can anybody tell us ...
11.11.2010
Germ colonization with atypical cystic fibrosis
Hello, is the probability of germ colonization as high in atypical cystic fibrosis (R553x and IVS8-5T-TG12 mutations) as in typical cystic fibrosis? Many thanks. Kind regards C.M.
06.09.2010
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