Find Out More About Your Mutations

In an international research project, scientists are examining cystic fibrosis transmembrane conductance regulator (CFTR) mutations to determine which ones cause CF and to provide additional information associated with these mutations. Their findings are available in an online searchable database.

3 min read
In this article
Summary
  • With Cystic Fibrosis Foundation support, an international team of researchers created an online database that provides information about different mutations and symptoms associated with each mutation.
  • This growing database has information from nearly 90,000 people with CF, collected by CF patient registries and care centers around the world.

Find Information on Specific CF Mutations

Cystic fibrosis is a genetic disease that occurs when people inherit two copies of the defective cystic fibrosis transmembrane conductance regulator (CFTR) gene -- one copy from each parent. The severity of the disease can vary greatly depending on the combination of mutations that someone inherits. Modifier genes that are also inherited and environmental factors play a role.

With Cystic Fibrosis Foundation support, an international team of researchers created an online database that provides information about different mutations and symptoms associated with each mutation. This online resource is designed for people with CF and their families, researchers, health professionals, and the general public.

The database can be found on the website CFTR2, which stands for the Clinical and Functional Translation of CFTR. This growing database has information from nearly 90,000 people with CF, collected by CF patient registries and care centers around the world.

Using the CFTR2 Website

The CFTR2 website describes the characteristics of several hundred of the most common CFTR mutations. Users can search by entering one or two mutations.

Because not all changes in the CFTR gene cause the symptoms associated with CF, the search results will note whether the mutations cause disease and provide a general picture of the lung function levels, sweat chloride levels, and pancreatic function associated with individual mutations or combination of mutations. These health indicators are then compared to the statistics for the rest of the patients included in the database.

The search results cannot predict how mutations will affect a particular individual because they do not include information about other factors that might influence the course of someone's disease. Site organizers recommend that users consult their doctor or genetic counselor for additional information about any one person.

The CFTR2 project is a collaboration between the Cystic Fibrosis Foundation; Johns Hopkins University, Baltimore; the Hospital for Sick Children, Toronto; and the Cystic Fibrosis Centre, Verona, Italy.

Resources

For more information, watch the webcast "CFTR2: Information About CF Mutations."

For people with CF who have not yet been tested to determine their CF mutations, or who have been tested previously but still have one or more unknown mutations, the CF Foundation provides the Mutation Analysis Program (MAP), a free and confidential genetic testing program for people with a confirmed diagnosis of CF.

Share this article
Topics
Intro to CF | Research
Was this information helpful?
Downloads
Know Your CFTR Mutations Infographic Download
Have questions? We’re here to help. Call us at 1-800-FIGHT CF

(1-800-344-4823)
Mon - Thu, 9 am - 7 pm ET
Fri, 9 am - 3 pm ET

 

More Ways To Get Help