ABCMdb

PMID: 21658649

Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevinek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C
Recommendations for the classification of diseases as CFTR-related disorders.
J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCC7 p.Arg117His Moreover, this list is too loose, because it includes the p.R117H mutation that is most often associated with no disease when identified by newborn screening [14]. Login to comment 64 ABCC7 p.Arg117His The example of the p.R117H mutation demonstrates clearly that it is inappropriate to rely solely on IRT results and mutation analysis [14]. Login to comment 106 ABCC7 p.Arg117His The two most common compound heterozygous genotypes found in European males with CBAVD are p.F508del in trans with IVS8-5T (28%) and p.F508del in trans with p.R117H (6%). Login to comment 120 ABCC7 p.Arg117His The IVS8-5T allele is also a genetic modifier of the mild mutation p.R117H when they are associated in cis. Login to comment 121 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His Thus, the combination p.R117H-7T is often found in CBAVD, p.R117H-5T is frequently found in CF-PS patients, whereas p.R117H-9T is generally not associated with disease [58]. Login to comment 129 ABCC7 p.Arg117His ABCC7 p.Phe508Cys Occasionally, rare variants of IVS8-Tn alleles have been identified in CBAVD males, including for example cases of IVS8-T3-TG12 in trans with F508C [54], IVS8-T2- TG13 in trans with R117H-TG11T9 [63] and IVS8-T6 [64,65]. Login to comment 137 ABCC7 p.Gly576Ala [G576A;R668C], p. Login to comment 138 ABCC7 p.Asp443Tyr [D443Y;G576A;R668C], p. Login to comment 139 ABCC7 p.Arg74Trp ABCC7 p.Ser1235Arg [R74W;V201M;D1270N] and S1235R-IVS8-5T [37,38,66, 68]. Login to comment 213 ABCC7 p.Leu997Phe Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with a heterozygous p.L997F missense mutation in the unlinked CFTR gene [121]. Login to comment 214 ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe Heterozygosity for p.L997F had been previously reported in association with a variety of different conditions including ICP, disseminated bronchiectasis, primary sclerosing cholangitis, and hypertrypsinemia, but there is evidence that p.L997F is not a CF causing mutation [122]. Login to comment 215 ABCC7 p.Leu997Phe Given that deletion of the entire SPINK1 gene is disease-causing in its own right, the CFTR p.L997F missense mutation (which has a frequency of <1% in the French population) might simply be acting as a disease modifier, at least in the context of this particular family [121]. Login to comment 217 ABCC7 p.Gly542* In one study [123], three CFTR mutations (p.F508del, p.G542X and c.579+1G>T (previously named 711+1G>T)) were detected in 8.9% of 449 ACP patients, although the mutation detection rate was not significantly different from that observed in patients with alcoholic liver disease (3.0%) nor that expected in the geographical area under investigation (3.2%). Login to comment 323 ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Using biochemical (N) and functional (i and Po) data, the apical CFTR Cl- current generated by the CF-PI mutant p.F508del-CFTR and the CF-PS mutants p.R117H-, p.R334W-, p.R347P-, p.A455E- and p.P574H-CFTR were predicted [166,167]. Login to comment 332 ABCC7 p.Pro574His For example, the CF-PS mutant p.P574H-CFTR disrupts CFTR processing, albeit not as severely as p.F508del-CFTR, but generates a CFTR Cl-channel with a Po value greater than that of wild-type CFTR [167]. Login to comment