mutation

Question

hello
my 3 month old son has the mutation DF 508 and 2183 AA-G
Does anyone has the same mutation and what it is their course of disease even though I know that the mutation is not everything but I do not know anyone with this mutation and I wonder if the other people carry this mutation and what is their evolution.
thank you very much for your answer

Answer

Hello,
The frequency of the mutation 2183AA G is low, estimated to be 9% in northern Italy east and about 1% in other European countries including France. Some publications report cases in Turkey, Spain, Bulgaria and Canada.
The international database CFTR2 identified 272 patients including 132 with F508del (= DF508) on the other chromosome like your son, including 30 in France (2008 data). The clinical picture of these patients is comparable to that of patients homozygous for F508del (DF508/DF508), ie a classical form.
But as you said, many other parameters can affect the development of symptoms. Among those regular monitoring by a specialized team, early treatment of infections and good nutrition are factors that are favorable for the prognosis.

I encourage you to discuss this and any other issues with the CF center team in charge of your son.

Sincerely,

Dr Sophie Ravilly

27.10.2011