ABCMdb

PMID: 10229049

Lecoq I, Brouard J, Laroche D, Ferec C, Travert G
Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns.
Acta Paediatr. 1999 Mar;88(3):338-41., [PubMed]

Sentences

No. Mutations Sentence Comment

59 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp In 5 compound heterozygotes, G551D/DF508 (3 cases), G551D/1078delT and G551D/574delA, the neonatal IRT concentrations were highly increased, to 1490-2000 mg LÀ1 (mean Æ SD: 1653 Æ 208 mg LÀ1 ). Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Arg117His Two CF newborns carrying mutation R117H and G551D or DF508 had lower IRT concentrations (1010 and 1070 mg LÀ1 ). Login to comment 61 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly149Arg ABCC7 p.Ile148Thr ABCC7 p.Glu585* ABCC7 p.Leu206Trp Twins or unrelated patients with identical genotype had very similar neonatal IRT concentrations: DF508/I148T (twins), 1040 and 1055 mg LÀ1 ; N1303K/G149R (twins), 1600 and 1725 mg LÀ1 ; DF508/E585X, 900 and 945 mg LÀ1 ; DF508/ G542X, 1535 and 1660 mg LÀ1 ; DF508/L206W, 980, 1090 and 1100 mg LÀ1 . Login to comment 72 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly149Arg ABCC7 p.Ile148Thr ABCC7 p.Glu585* ABCC7 p.Leu206Trp In this study, CF newborns with one mutation in an exon encoding for either NBD1 or NBD2 (DF508, G542X, G551D, E585X, N1303K, etc.) and the other affecting one of the MSD (R117H, 574delA, I148T, G149R, L206W, etc.) had significantly lower IRT concentrations than CF neonates with both mutations located in NBD. Login to comment 73 ABCC7 p.Glu585* Missense and nonsense mutations affecting NBDs were associated with highly increased neonatal IRT concentrations, with the exception of E585X. Login to comment 76 ABCC7 p.Gly149Arg I Lecoq et al. ACTA PÆDIATR 88 (1999) MSDs were associated with IRT concentrations lower than 1300 mg LÀ1 , with the exception of 574delA, 1078delT and G149R. Login to comment