ABCMdb

PMID: 8530001

Ferec C, Verlingue C, Parent P, Morin JF, Codet JP, Rault G, Dagorne M, Lemoigne A, Journel H, Roussey M, et al.
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.
Hum Genet. 1995 Nov;96(5):542-8., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gly544Ser ABCC7 p.Arg553Gly ABCC7 p.Val317Ala ABCC7 p.Val322Ala This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S). Login to comment 51 ABCC7 p.Gly551Asp The complete analysis of exons 7, 10, and 11 allows the identification of 90% of the mutations (78% AF508, 4% G551D, 5% 1078 del T, 3% 1717-1 G--~A). Login to comment 58 ABCC7 p.Gly551Asp ABCC7 p.Gly149Arg ABCC7 p.Arg553Gly Sweat test values are borderline for one neonate (60 mmol/l, genotype G551D/R553G) and normal for two neonates of genotype AF508/G149R and AF508/R1070 W. Login to comment 63 ABCC7 p.Gly149Arg This scanning of the gene permitted the identification of compound heterozygosity in two children (AF508/R1070 W, AF508/G149R; see Table 1). Login to comment 80 ABCC7 p.Arg117His ABCC7 p.Arg347His ABCC7 p.Arg347Leu ABCC7 p.Gly91Arg ABCC7 p.Phe311Leu Identification of novel mutations The systematic screening of exons 7, 10, and I I performed on each positive Guthrie card during this period has led us to identify five new mutations in the CFTR 30 545 % of non AF508 mutations 20 9 1717-1G->A 10 & & i i Esox G91R I 621+1G->T R117H 6b[ 7 905delG 1078 del T R347H 1221 det CT F311L R347L i10 i11i12 13 14a~l ! Login to comment 82 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly149Arg ABCC7 p.Gly544Ser ABCC7 p.Tyr1092* ABCC7 p.Arg1070Trp ABCC7 p.Arg1070Trp ABCC7 p.Trp846* ABCC7 p.Arg1066His ABCC7 p.Arg560Lys ABCC7 p.Arg560Lys ABCC7 p.Arg553Gly ABCC7 p.Arg553Gly ABCC7 p.Val317Ala ABCC7 p.Val322Ala ABCC7 p.Ala1067Thr ABCC7 p.Glu827* ABCC7 p.Tyr569* {17bi DI507 [ Y569X W846X 2789+5G->A ,' $492F i ] i I G551D 2622+1 G->A Y1092X 1717-1 G->A E827X A1067T G542X 2183 AA->G R1066H R560K 2184 ins A 3320,ins 5 R553G R1070W 1806 del A & 4005+1G->A W1282X ] i "- Exons Fig.2 Distribution of the different mutations (except AF508) of the CFTR gene in Brittany Table 1 Mutations and genotypes in newborns Genotypes of newborns Number Sweat test AF508/AF508 7 + > 90 AF508/1806 del A 1 + > 90 R553G/G551D 1 Borderline (60) AF508/G551D 1 + > 90 AF508/R1070W 1 40 AF508/G542X 1 + > 90 AF508/G149R 1 45 Total 13 Mutations found in heterozygote newborns AF508 31 R560K 1 1078 del T 1 G544S l G542X 1 V317A 1 R347H 1 V322A 1 Total 38 gene. Login to comment 83 ABCC7 p.Val317Ala The first, a T---~C mutation at position 1082 in exon 7, results in the substitution of alanine for valine (V317A; Fig. 3). Login to comment 87 ABCC7 p.Val322Ala The second molecular abnormality found was a T----)C change at position 1097 in exon 7 also resulting in a valine to alanine substitution (V322A). Login to comment 88 ABCC7 p.Arg553Gly The third molecular abnormality found was a C--)G change at position 1789 in exon 11, substituting glycine for arginine (R553G; Fig. 3). Login to comment 89 ABCC7 p.Gly551Asp One of the newborns with an elevated IRT was a compound heterozygote for this mutation and a G551D mutation. Login to comment 94 ABCC7 p.Gly544Ser ABCC7 p.Gly544Ser The nucleotide change is a G---~A at position 1762 corresponding to the substitution of serine for glycine at codon 544 (G544S; Fig. 3). Login to comment 100 ABCC7 p.Gly551Asp ABCC7 p.Gly544Ser ABCC7 p.Arg553Gly ABCC7 p.Val317Ala It has been Fig.3 Autoradiographs showing the nucleotide sequence of portions of exons 11 and 7 of CFTR and demonstrate the mutations G544S, R553G + G551D, and V317A. Login to comment 122 ABCC7 p.Gly551Asp This is the case for three children in this sample (genotypes given above) who are compound heterozygotes carrying a common CFTR allele (AF508 or G551D) and a missense mutation on the other allele. Login to comment 123 ABCC7 p.Gly149Arg ABCC7 p.Arg553Gly R553G is described for the first time in this paper; Rl070 W and G149R are rare alleles and have been described in an analysis by the CF Genetic Consortium on one or two chromosomes (personal communication). Login to comment 128 ABCC7 p.Gly544Ser ABCC7 p.Val317Ala ABCC7 p.Val322Ala The other mutations whose pathogenicity is, as yet, impossible to determine are V322A, V317A, and G544S. Login to comment