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Unlisted mutation: Research and treatment

Question
Hello,
We just learned the diagnosis of our baby.
It has a mutation that is not listed.
Will this affect his future treatment?
In short, will it be less well treated than a patient with the delta 508 mutation for example?
Cordially.
Answer
Hello,

The kit used for screening tests comprises only the most frequent mutations in the cystic fibrosis gene (the CFTR gene) that are found in about 85% of people with cystic fibrosis in France.

It is not necessary to have identified the two mutations to confirm the diagnosis if the sweat test is clearly positive (with a sweat sodium concentration > 60 mMol/L).

After diagnosis, the search for the second mutation may (must) continue with other techniques, including so-called high-throughput screening techniques that can identify up to 98% of the nearly 2,000 mutations known to the CFTR gene, many are rare or even exceptional. These techniques are used by some genetic centers, including at least the three national reference centers for cystic fibrosis (Brest, Montpellier, Paris-Cochin). It is important to seek to identify the second mutation because some rare mutations may be indicative of treatments that act on the mechanism of the disease.

Apart from the possibility of identifying a second mutation that could be an indication of a specific treatment, there is no reason why your child should be less well cared than another child who has 2 identified mutations. Most treatments currently available are symptomatic treatments independent of mutations. The management of a CF Centre should enable your child to benefit from the experience of a specialized multidisciplinary team that will be able to prescribe the most appropriate treatments and keep you informed about developments.

Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center
24.02.2017