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H199Y mutation

Question
Hello,
my daughter born in 1995 has a H199Y mutation not listed in one of the four mutation classes (confirmed by doctor and scientist of the French CF association).
How is this possible and how to know in this case if one of the latest treatments and future developments will be of concern?
Thank you.
Answer
Hello,

The CFTR gene counts almost 2,000 different abnormalities, some of which are private or very rare. It is currently impossible to categorize all of these mutations in one of the 6 classes and therefore difficult to know which class specific treatment will apply.
The H199Y mutation is a "CF-causing" mutation which is probably belonging to class II or Class III.

To find out should perform functional tests, which is not accessible to all laboratories. These laboratories include three French reference laboratories for CF molecular genetics : Cochin Paris, Montpellier, Brest.

If it is a Class III mutation, she will be potentially eligible for treatment by a modulator (potentiator) currently on the market or under investigation. If it is a class II mutation, she could perhaps benefit from treatments under development combining corrector + potentiator.

Sorry for not being able to date to tell you more.
Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center
With the kind contribution
Ms. Marie-Pierre AUDREZET, Molecular Genetics University Hospital of Brest
05.08.2015