CFTR MUTATION CLASSES Normal Class I Class II Class III Class
CFTR mutations are grouped into classes based on the way the mutations affect the CFTR protein The reverse side of this sheet shows the most common CFTR mutation classes In the future, mutations may also be classified by “theratype,” meaning which type of CFTR modulator therapy they respond to best
CFTR MUTATION CLASSES Normal Class I Class II Class III Class
CFTR mutations are grouped into classes based on the way the mutations affect the CFTR protein The reverse side of this sheet shows the most common CFTR mutation classes In the future, mutations may also be classified by “theratype,” meaning which type of CFTR modulator therapy they respond to best
THE ROLE OF CFTR MUTATIONS IN CAUSING CYSTIC FIBROSIS (CF)
•CF occurs when a child inherits two copies of a CFTRgene mutation resulting in a CF genotype1,2 •CFTR protein activity is determined by CFTR protein quantity and function1,3 •In CF, there is a reduction in total CFTR protein activity leading to an imbalance of fluid and ions in organs throughout the body1,3,4
Cystic Fibrosis Mutation Analysis - Oklahoma
However, over 1500 CFTR mutations have been documented worldwide This panel provides approximate CFTR mutation detection rates of 90 5 in North American Caucasians, 73 8 in Hispanic Americans, 67 5 in African Americans, 48 9 in Asian Americans, and 94 0 in Ashkenazi Jews based on reported mutation frequencies in ethnic groups
Therapeutic Class Overview Cystic fibrosis transmembrane
either reduce the amount of CFTR protein that reaches the cell membrane surface or reduce the function of CFTR as a chloride channel (Egan 2016) The most common CFTR mutation leading to CF is the F508del mutation; approximately 50 of patients with CF are homozygous for this mutation, and 90 carry at least 1 copy (Katkin 2019)
1 Introduction - WHO
CFTR gene mutations have been well characterized in most European populations In several Western-European countries, mutations are detected in more than 95 of the CFTR genes derived from CF patients The F508del CFTR mutation is the most common mutation causing CF F508del Frequencies vary from a
State of California—Health and Human Services Agency
CFTR modulators are new therapies that improve chloride transport across the cell membrane by modulating the structure and function of the defective CFTR There are over 1,700 known CFTR mutations Mutation classes amenable to current CFTR therapies include gating mutations, conduction mutations, splice mutations, protein-
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