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Research and mutation c.489+1G>T
- Question
- Hello,
I wonder if there are many people homozygous for the mutation c.489 + 1G> T (621 + 1G> T) and what about therapeutic or research, is there hope in this case?
- Answer
- Hello,
The mutation c.489 + 1G> T (621 + 1G> T) represents 0.22% of the mutations found in the latest study about the neonatal screening in France from 2002 to 2010, which means that 0.04% of patients may be homozygous, as saying that the probability of union of two spouses carriers of this mutation is almost zero unless there is an inbreeding.
I did not find any patient with this mutation in CFTR2, the largest of the CFTR gene database. I am not aware that a patient with this mutation is known to the French Cystic Fibrosis Registry.
This is a so-called splice mutation. I have no knowledge of therapeutic research targeting this type of mutation, at least currently.
Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center
- 05.08.2015
