G542X

Question

Recently we were informed that the child I am about to give birth to will carry the mutations PG542X & C2183AA>G. Are these mutations grave? In average what is prognosis? Will the new drugs help my child? Is there some other way to help my child, other that physiotherapy and visiting the CF center? I am in my 5th month. What must I do?

Answer

Dear friend,
the correct names of the mutations you mention are assumably G542X and 2183AA>G. These mutations are considered as "typical CF" mutations showing the "classical picture" of the disease with insufficiency of the pancreas and lung involvement. However, the mutations analysis only gives a rough direction but it has clearly to be stated, that the individual clinical course and the degree of lung involvement especially cannot be predicted according to the genotype, as many other genetic and environmental factors play a role and severity of disease differs substantially even between patients with the exact same mutations.
All of us, who work with CF patients, as well as the members of the associations of patients with CF, believe that there will be a cure for CF, hopefully within the next few years. Several drugs which are supposed to “partly correct” the genetic mutations, are under development. For so-called “stop mutations” (G542X belongs to this group, therefore it is of high interest for your child) there is a drug under development named PTC124. A Phase III clinical trial has just finished and the results are expected for summer 2012. However, until this drug might become available on the market, roughly 2 years might be needed. Please find more information under the following link:

ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=1803&tx_expertadvice_pi1[search]=PTC124


An infant born today has a life expectancy, which is very near to the life expectancy of normal infants, and has nothing to do with the life expectancy of infants with this diagnosis of the past. In fact, for patients born after 2000, the estimate is that the median life expectancy will be around 50 years.
Today, you cannot do anything more other than visiting your CF center on a regular basis and doing physiotherapy. It goes without saying that you must follow the instructions of the CF center about the drug treatment, the diet and the physiotherapy, as well as any other consultation, to the letter.
Yours friendly,
Dr. Stavros Doudounakis and Dr. Daniela d'Alquen

02.07.2012