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Genotype F508del/174del A/K14X

Question
Hello,
we just got the diagnose of CF in my 2-year-old son, just a few days ago with the above mentioned mutations. What does the mutation really mean? Is that a mild or a severe mutation? Is it rare? Unfortunately I cannot find anything online. Many thanks in advance.
Answer
Hello,
in your child, obviously 3 CFTR mutations have been found (F508de, 174delA and K14X). F508del is the most frequent CFTR mutation and stands for the classical (severe) course of CF, if his mutation is homozygous (that means 2 copies of this mutation) or in combination with another CFTR mutation, that is as severe as F508del. 174delA seems to be a mutation, with that patients can be pancreatic sufficient, therefore probably showing not such a severe course. About the mutation K14X I did not find any secure data, either, which could help you in making a prognosis. It is furthermore difficult to judge, how the 3 mutations react in combination with each other. In most of the cases only two mutations are found (each on one of the two chromosomes of the pair). Here it would be interesting to know, which of the 3 mutations are combined on one chromosome. In this case, one can do a test in a specialized reference ceter (i.a. Heidelberg, Freiburg, Berlin, Hannover) which measures the CFTR function in a biopsy of the rectal mucosa. Here one can tell you after the measurement, if your child has rather a severe type of CF or one with still a residual function.

With best regards,
Olaf Sommerburg
16.01.2017