ABCMdb

PMID: 10325788

Sarles J, Barthellemy S, Ferec C, Iovanna J, Roussey M, Farriaux JP, Toutain A, Berthelot J, Maurin N, Codet JP, Berthezene P, Dagorn JC
Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis.
Arch Dis Child Fetal Neonatal Ed. 1999 Mar;80(2):F118-22., [PubMed]

Sentences

No. Mutations Sentence Comment

74 ABCC7 p.Arg117His The tenth, screened for raised IRT in the Rennes programme, was asymptomatic with a negative sweat test but showed two CFTR mutations ( F508/R117H). Login to comment 77 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ile148Thr ABCC7 p.Glu1308* Other genotypes were F508/G542X (n=4), F508/N1303K (n=2), F508/I148T (n=2), F508/R117H, F508/R553X, F508/1717-1G->A, F508/ 1078delT, F508/2789+5G->A, F508/ E1308X (a novel CFTR mutation), R553X/ 394delTT, and N1303K/R553X. Login to comment 80 ABCC7 p.Arg117His All also had a positive sweat test, except for the baby with a F508/R117H genotype (PAP = 6.8 ng/ml), who remains asymptomatic after 24 months. Login to comment 82 ABCC7 p.Arg117His Because the 9T is always associated with the F508 allele, the R117H is associated with the 7T, which predicts absence of CF features. Login to comment 90 ABCC7 p.Arg117His The two CF patients with PAP < 8.0 ng/ml had genotypes predicting a mild phenotype18 19 : F508/R117H (PAP = 6.8 ng/ml) and F508/ 2789 + 5 G->A (PAP = 4.9 ng/ml). Login to comment 108 ABCC7 p.Arg117His The sixth was the asymptomatic baby (IRT = 1750 ng/ml, PAP = 6.8 ng/ml, F508/R117H) described above. Login to comment 121 ABCC7 p.Arg117His We are concerned that we could miss those with pulmonary damage, albeit limited, but whether asymptomatic babies with a genotype predicting a mild pulmonary phenotype ( F508/R117H and 9T/7T, PAP = 6.8 ng/ml) should be screened is questionable. Login to comment 191 ABCC7 p.Arg117His 19 Fitzgerald D, Van Asperen P, Henry R, et al. Delayed diagnosis of cystic fibrosis in children with a rare genotype ( F508/R117H). Login to comment