|
|
|
 |
|
|
CFTR2 Progress Report
The goal of the CFTR2 project is to categorize all mutations seen in patients with CF as one of the following:
- Disease-causing: The mutation, when combined with another CF-causing mutation, will always result in CF.
- Neutral: The mutation (in the absence of another mutation on the SAME copy of the CFTR gene), when combined with
another CF-causing mutation, will not result in CF.
- Mutation of Varying Clinical Consequences: The mutation, when combined with another CF-causing mutation:
- Can result in CF
- Can result in no disease
- Can result in a CF-related disease such as congenital bilateral absence of the vas deferens (CBAVD) or pancreatitis
Mutations that have not been fully analyzed yet will be characterized as mutations of unknown clinical significance.
At this time, we have performed analysis and made a determination about
130 of the 1221 total mutations that are reported in CFTR2. |
|
|
|
|
|
|
Permitted use available to clinicians, patients, and family members for clinical, research, and educational uses only. All other rights reserved.
@ Copyright 2011 US CF Foundation, Johns Hopkins University, The Hospital for Sick Children. |
|
|
Display full list of characterized CFTR2 mutations