ABCMdb

PMID: 24440181

De Boeck K, Zolin A, Cuppens H, Olesen HV, Viviani L
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
J Cyst Fibros. 2014 Jul;13(4):403-9. doi: 10.1016/j.jcf.2013.12.003. Epub 2014 Jan 16., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Ala455Glu Finally, class V mutations result in a markedly decreased amount of CFTR protein with normal function at the epithelial cell membrane and include splice site mutations that only partially disturb correct splicing (e.g. 3849+10KbCNT and 2789+5GNA) or mutant CFTR that only partially matures (e.g. A455E). Login to comment 34 ABCC7 p.Arg117His Other mutation class specific treatments are in the pipeline [18]: stop codon read through drugs for patients with premature stop codon mutations, combination therapy with correctors and potentiators in subjects with class II mutations, evaluation of the efficacy of the CFTR potentiator ivacaftor in subjects with R117H class IV mutation or residual CFTR function. Login to comment 49 ABCC7 p.Gly85Glu We modified the classification proposed by McKone et al. [21] based on new insights: G85E was reassigned to class II [22], and recently recognized gating mutations with proof of CFTR potentiator responsiveness were added to class III [23]. Login to comment 56 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly551Ser ABCC7 p.Gly1244Glu ABCC7 p.Gly1349Asp ABCC7 p.Ser1255Pro ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Ser1251Asn ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Gly970Arg ABCC7 p.Gly178Arg Class Type of defect List of mutations attributed to this class Class I Defective protein production Nonsense mutations Large deletions and insertions 1078delT; 1717-1G࢐A; 3659delC; 621+1G࢐T Class II Defective protein processing G85E, F508del, I507del, R560T, N1303K Class III Defective protein regulation ('gating`) G178R, S549N, S549R, G551D, G551S, G970R, G1244E, S1251N, S1255P, G1349D Class IV Defective protein conductance R117H, R334W, R347P Class V Reduced amount of functioning protein 2789+5G࢐A, 3849+10KbC࢐T, A455E Unclassified All other mutations, including those unknown. Login to comment 105 ABCC7 p.Gly551Asp Jointly, the 9 non-G551D gating mutations account for only 18.3% of patients with a class III mutation. Login to comment