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Mutation w1282x
- Question
- Hello,
My two months old son was diagnosed a month ago. The first mutation is W1282X, included in the so-called severe mutations, type 1. The second has not yet been found, it is apparently quite rare.
I have two questions relative to this: does W1282X necessarily give severe symptoms (my son is already taking Creon for his pancreas does not produce enough enzymes)? Are very rare mutations moderate or can they be severe?
Thank you in advance - Answer
- Hello,
There is no clear correlation between CFTR mutations and clinical or phenotypic expression of the disease. In fact, the CFTR mutation of your son, as the DF508 mutation, is usually associated with an early expression of the disease including pancreatic insufficiency; however, the severity of the respiratory symptoms are not always correlated with the genotype. On the other hand, the second mutation is probably a rare mutation and it could modify the consequences of the first mutation on the CFTR protein function and so it could also modify the clinical expression of the disease.
Dr. Isabelle Durieu - 15.05.2012
