ABCMdb

PMID: 25824995

Salinas DB, Sosnay PR, Azen C, Young S, Raraigh KS, Keens TG, Kharrazi M
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.
J Cyst Fibros. 2015 Nov;14(6):714-9. doi: 10.1016/j.jcf.2015.03.006. Epub 2015 Mar 29., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Val754Met ABCC7 p.Ser1235Arg ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Arg31Cys ABCC7 p.Leu997Phe ABCC7 p.Arg1162Leu Conclusions: The outcomes in children 2-6 years of age with the L997F, G576A, R1162L, V754M, R668C, R31C, and S1235R variants are consistent with the CFTR2 non-CF-causing classification. Login to comment 32 ABCC7 p.Gln98Arg All but three of the variants on the panel (F311del, 935delA, and Q98R) have been evaluated by CFTR2 and determined to be CF-causing. Login to comment 52 ABCC7 p.Leu997Phe Of the seven variants, L997F was found most frequently among screening test positive newborns (34/848, 4%), with each of the other variants being b1%. Login to comment 55 ABCC7 p.Gly542* ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala There were no sweat chloride results meeting CF diagnostic criteria of ࣙ60 mmol/L in the N-CF group, and only one subject with three variants (G542X, G576A, R668C) had values in the "possible CF" category (ࣙ40 mmol/L) beyond 6 months. Login to comment 86 ABCC7 p.Arg117His An example of this is the poly-T repeat within intron 9 that influences the penetrance of R117H [22]. Login to comment 87 ABCC7 p.Arg117Leu ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe In another example, the combination of R117L and L997F on the same allele causes a more severe phenotype than L997F alone, though this combination was not observed in this study [23]. Login to comment 95 ABCC7 p.Val754Met ABCC7 p.Ser1235Arg ABCC7 p.Arg31Cys ABCC7 p.Leu997Phe ABCC7 p.Arg1162Leu Non-CF-causing variants from CF NBS in California cDNA name Number of patients identified from the CA CF NBS Mean [Cl-] conductance (as % WT-CFTR) b C/(B + C) (as % of WT-CFTR) in HeLa cellsc C/(B + C) (as % of WT-CFTR) in FRT cellsd CFTR protein quantity (as % WT-CFTR)e L997F c.1408A N G 34 22 97 104 100 G576Aa c.1727G N C 7 147 98 110 104 R1162L c.3485G N T 6 130 93 94 94 V754M c.2260G N A 4 140 98 107 102 R668Ca c.2002C N T 2 58 97 106 102 R31C c.91C N T 2 105 92 86 89 S1235R c.3705T N G 2 79 96 106 101 CA CF NBS = California Cystic Fibrosis Newborn Screening Program. Login to comment 96 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala a All subjects who had G576A from this study also had R668C in cis. Login to comment 97 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala Two other subjects had R668C without G576A. Login to comment 98 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala G576A and R668C were analyzed as single alleles in CFTR2. Login to comment 128 ABCC7 p.Leu997Phe The majority of these newborns carried the L997F variant. Login to comment