genetics

Question

what means c.2183AA>G

Thank you

Answer

Dear Questioner
c.2183AA>G is a name for a mutation that causes cystic fibrosis. There are many mutations that can cause cystic fibrosis. Some can cause mild dysfunction of the CFTR protein and therefore cause milder disease. And there are others that cause greater dysfunction of CFTR protein and generally more severe disease. It is however difficult to predict with certainty, the clinical presentation and future course of a patient’s condition based only on their genetic information. People with the same two copies of the mutated CFTR gene may experience very different symptoms. There are many factors that can influence cystic fibrosis disease. These can include factors from the patient’s environment (for example, exposure to tobacco smoke and nutrition). A very important environmental factor is the person’s therapy. The improvements in survival over the past 5 decades shows the benefits of intense treatment which includes pancreatic enzymes, intensive nutritional support, antibiotics for pulmonary infections, aggressive physiotherapy and multidisciplinary care (Castellani et al 2008).

There is a large database which gathers information on the clinical outcomes of patients with different mutations (www.cftr2.org/). It should be noted that this can only give us trends for groups of patients, and cannot tell us exactly what is likely to happen to one particular individual. This database lists 2183AA>G as a mutation which is generally associated with lung disease and pancreatic insufficiency. Two mutations are required to be present in order to cause cystic fibrosis. The outcome for a person with this mutation would also depend on the severity of the other mutation with the least severe mutation being dominant.
We would advise you to talk to a cystic fibrosis specialist team about any concerns. They would be able to give more specific advice after a face-to-face consultation with you.

Hope this is of some help
Best wishes, Lisa Kent and Laura Jenkins
Belfast

23.10.2013

The answer is edited by: PhD Lisa Kent