Table 9.

Ten Most Common CFTR Mutations in Persons of Northern European Heritage with Related Phenotypic Expression

Mutation Relative
Frequency
Mutation
Functional
Class 1
Phenotype 2
ΔF50866.0%IIClassic 3
G542*2.4%I
G551D1.6%III
N1303Lys1.3%II
W1282*1.2%I
R553*0.7%I
621+1G>T0.7%I
1717-1G>A0.6%I
R117H0.3%IVNon-classic
R1162*0.3%Not clear 4 Classic

1. See Table 10.

2. At a recent European Cystic Fibrosis Society Consensus Conference (Interpretation of Genetic Analysis for CF, Garda Lake, Italy, March 23-24, 2007), it was decided that mutation class is useful from a molecular biology perspective but that it should not be used clinically. A manuscript summarizing the results of this consensus conference is in preparation [Garry R Cutting, personal communication].

3. There are numerous exceptions to the correlation between mutation effect and phenotype (e.g., A455E is Class II but associated with mild lung disease and pancreatic sufficiency).

4. Transcript is stable; truncated protein is probably misfolded; therefore, likely Class II.

From: CFTR-Related Disorders

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