ABCMdb

PMID: 16202788

Rock MJ, Hoffman G, Laessig RH, Kopish GJ, Litsheim TJ, Farrell PM
Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing.
J Pediatr. 2005 Sep;147(3 Suppl):S73-7., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ile148Thr ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr Mutations included in this assay are 2184delA, A455E, DI507, DF508, G542X, G551D, R553X, R560T, 1717-1G>A, R1162X, 3659delC, N1303K, W1282X, R334W, R347P, 1078delT, R117H, I148T, 62111G>T, 278915G>A, 3849110kbC>T, G85E, 109811G>A, 71111G>T and 312011G>A. Login to comment 31 ABCC7 p.Arg117His When R117H was detected, reflex testing for the polythymidine tract in intron 8 (5T, 7T, and 9T) was performed. Login to comment 51 ABCC7 p.Arg553* ABCC7 p.Arg1162* Details of these infants are: 1) CF diagnosed at 9 months, pancreatic sufficient, genotype: 3007delG/unknown; 2) CF diagnosed at 6 weeks because of failure to thrive, pancreatic insufficient, genotype: R553X/R1162X; 3) CF diagnosed at 6 weeks because of family history, pancreatic Table I. Login to comment 56 ABCC7 p.Trp1282* ABCC7 p.Arg347Pro ABCC7 p.Ile148Thr §Eight cases of DF508/DF508, 1 case of DF508/312011G>A, 1 case of DF508/3849110kbC>T, 1 case of DF508/W1282X, 1 case of DF508/ R347P, 1 case of DF508/278915G>A, 1 case of DF508/I148T. Login to comment 57 ABCC7 p.Thr1299Ile (The latter case did not have testing for the 3199del6; a third mutation, T1299I, was identified by a referral lab.) Login to comment 59 ABCC7 p.Arg553* ABCC7 p.Arg347Pro sufficient, genotype: R347P/unknown; and 4) CF diagnosed at 3 months, pancreatic insufficient, genotype: R553X/unknown. Login to comment 64 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Ile148Thr Two alleles, with 1 being an R117H: 5 cases of DF508/R117H(7T/9T), 1 case of G542X/ R117H(7T/9T), 1 case of R117H/R117H(5T/7T), and 1 case of I148T/R117H(7T/9T). Login to comment 66 ABCC7 p.Ile148Thr The sweat test values for these infants ranged from 20 to 40.8 mEq/L, with the exception of the infant with I148T/R117H(7T/9T), whose sweat chloride value was 11 mEq/L (testing for 3199del6 was not performed). Login to comment