CF test for only one parent

Question

Hello, I would like to know the impact on my 5-year and 6-months-old daughter’s health who was F508del homozygous diagnosed in 2011. Regarding that only her mother has made genetic testing (her father did not wish to do), could you give me some information about it and whether it will affect future treatment following the research? Thank you for answering. Regards.

Answer

Hello,
If two F508del mutations of the CF gene have been identified in your little girl by a qualified molecular genetics laboratory, this means that one of the two mutations was transmitted by the mother and the other by the father. The result of the genetic test is sufficient for making the diagnosis of CF if associated with a positive CF newborn screening test or suggestive symptoms of the disease. The identification of these two mutations, however, is not sufficient to predict the evolution of the disease in a given individual because it depends on many factors, genetic and environmental. Though, knowledge of mutations is important because the effectiveness of new treatments may depend on it. Clinical trials have been performed to test in F508del homozygous patients the efficacy of new molecules supposed to modulate dysfunction associated with these mutations. The results were considered positive and encouraging. However, monitoring of so treated patients is needed to clarify their efficacy and good tolerance in the longer term.
Hoping to have answered your questions.
Kind regards.
Gilles RAULT, MD, Roscoff CF Center

04.11.2014