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mutations database
- Question
- Hello,
We are the parents of a 7 month old CF girl, who has 2 CFTR mutations: p.W1204X and p.I507del. We understood that they were rare mutations. We know that there is a database gathering several CFTR mutations and giving information on the phenotype related to such mutations. Is there any possibility for families to have access to these databases? We would like to know how are the patients with 2 mutations identical to our baby.
Regards - Answer
- Hello,
The mutations W1204X and I507del are indeed rare mutations. The current international database (www.genet.sickkids.on.ca/app) does not report any patient with these 2 mutations. I did not find either any article in the literature reporting patients with those 2 mutations. This does not exclude, of course, that other patients may have these mutations.
A new international database will be available very soon, the CFTR2 database, which will gather anonymized information on more 40,000 patients from Europe and North America. When this database will be available, you should likely be able to find complementary information.
I am sorry not to be able to give you today more information but I will get in touch with you if I’m aware of a patient with similar mutations jointly.
Best regards
Harriet Corvol - 22.03.2012
