Genetics (2143delT/delF508)

Question

Hello, in my son F508 del and 2143 delT mutations were detected. As far as the first mutation is concerned, one can find some information about it in the internet. The second mutation is not known to me. Please, provide me with any information about this one. I know, that few people have this mutation, even my doctor (with 30-year-experience) in outpatient dept. hasn't seen such case so far. Greetings, looking forward to your answer.

Answer

Dear questioner,
In general it has to be stated, that the course of the disease of CF in the individual patient is affected by the genetic findings (types of mutation) but as well by other genetic and environmental factors. Therefore, even if trends of the severity of the disease can be made out of the genetic constellation, to give a precise prognosis of the individual patient is not possible.
As every human being has two copies of each gene and CF belongs to the so-called “autosomal-recessive” disorders, two mutations in the CFTR-gene (which is responsible for causing the disease of CF) are necessary in order to suffer from this disease (only one mutation leads to healthy carriership). If two mutations in the CFTR-gene are present (as in your special case, too) the clinical outcome is determined by the less severe mutation. Your child carries the two mutations 2143delT/del508F.
The F508del mutation is the most common CFTR mutation worldwide.
2143delT belongs to a class of mutations leading to the “typical picture” of CF with lung disease and pancreatic insufficiency, although younger patients could be pancreatic sufficient at the beginning. This particular mutation is quite common in Polish population, it belongs to the group of 16 most common mutations occuring in Poland.
However, as mentioned above, one has to remember, that the course of the disease is affected not only by the certain type of mutation, but also by other genetic and environmental factors, hence the individual course of the disease can not be predicted only according to genetic analysis.
First and foremost one should remember, that in CF - a chronic and progressive disease - proper treatment and physiotherapy are of the greatest importance to clinical course of the disease.
If you have further questions it could be of advantage to contact a genetic center for genetic counseling.

Best regards,
prof. dr hab. med. Wojciech Cichy
dr n. med. Natalia Kobelska-Dubiel
(consultation: dr n. med. Agnieszka Sobczyńska-Tomaszewska)

09.05.2011