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exon 13 sequence variant D727Y
Hello, in my daughter, the mutation exon 13 D727Y has been diagnosed heterozygously and in intron 8 the 7T-allel homozygously. Does that have any consequences? There are mutations however, which are not known already and not detectable. Is this CF or not? I would very much like to know if she ...
16.09.2010
Genotype in CF
My two grandsons (one 18 months, the other 4 years) have CF with genotype F508del (egzon 10) and S466X (egzon 10) in CFTR gen. Can you tell me to which class of mutation belongs S466X and what are the prognosis for the children with this genotype.
14.09.2010
genetics question
My daughter was found at age three (she is now nine years old) to have the mutations F508 and 711 3a G. At time she has not experienced any significant lung involvement ( a few episodes of bronchitis) and she is pancreatic sufficient. I would like to ask what is the phenotype and the relative ...
14.09.2010
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
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