ABCMdb

PMID: 24513262

Sarles J, Giorgi R, Berthezene P, Munck A, Cheillan D, Dagorn JC, Roussey M
Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.
J Cyst Fibros. 2014 Jul;13(4):384-90. doi: 10.1016/j.jcf.2014.01.004. Epub 2014 Feb 7., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCC7 p.Arg117His http://dx.doi.org/10.1016/j.jcf.2014.01.004 including R117H in the mutation panel, implies their management, which goes beyond the goal of newborn screening and iii/the panel of mutations is based on frequencies observed in the general population, which is unfair for ethnic minorities. Login to comment 158 ABCC7 p.Ala455Glu ABCC7 p.Arg553* ABCC7 p.Gly91Arg ABCC7 p.Asp110His ABCC7 p.Ser466* ABCC7 p.Ser466* ABCC7 p.Glu1104* ABCC7 p.Glu1104* ABCC7 p.Glu1104* IRT d3 Ctrl IRT PAP Cl- Mut 1 Mut 2 1 66 68 0.4 80 ƊF508del ƊF508del 2 87.8 106.5 0.5 137 E1104X E1104X 3 93.2 105.8 0.8 82 G91R ƊF508del 4 71.1 56.7 0.3 80.0 ƊF508del ƊF508del 5 67.9 54.4 1.5 99.0 ƊF508del ƊF508del 6 87.1 82.9 4.5 70.0 E1104X D110H 7 61.5 62 5.0 88.0 R553X A455E 8 62.4 63.0 14.6 110.0 2183AANG 907delCins11 9 117.0 81.5 15.6 130.0 S466X S466X Lines 1-3: false negatives in the IRT/PAP strategy, 6-9: false negatives in the IRT/DNA strategy, due to mutations not detected by the Elucigeneࡊ CF30, 45: false negatives in both strategies. Login to comment