ABCMdb

PMID: 9915972

Castellani C, Benetazzo MG, Bonizzato A, Pignatti PF, Mastella G
Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride.
Am J Hum Genet. 1999 Jan;64(1):303-4., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Leu997Phe Seven CFTR gene mutations were found in eight IRT-positive newborns, compared with one mutation (L997F) in the control group ( by Fisher`s exact test; see tableP ϭ .02 1). Login to comment 9 ABCC7 p.Arg117His ABCC7 p.Tyr301Cys ABCC7 p.Glu527Gly Three of these mutations (R117H, Y301C, and E527G) are thought to be disease causing in CF or in CBAVD, since they determine the substitution of an amino acid in evolutionarily conserved residues and therefore are tentatively classified, on the basis of the Cystic Fibrosis Genetic Analysis Consortium (CFGAC) database, as "mutations"; the other four mutations (1716 G/A, 2622ϩ14 G/A, 3041-71 G/C, and 4002 A/ G) are not believed to be disease causing in CF and CBAVD, either because they do not determine any amino acid substitutions (in the case of 1716 G/A and 4002 A/ G) or because they occur in noncoding regions that, as determined by sequence-analysis software, produce no apparent alteration (in the case of 2622ϩ14 G/A and 3041-71 G/C) and therefore are tentatively classified, on the basis of the CFGAC database, as CF "polymorphisms." Login to comment 10 ABCC7 p.Glu527Gly Mutations E527G and 2622ϩ14G/A are described here for the first time. Login to comment 16 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Tyr301Cys ABCC7 p.Glu527Gly Am. J. Hum. Genet. 64:303-304, 1999 Table 1 Sweat Chloride Concentration and CFTR Genotypes CASE SWEAT CHLORIDE (mEq/liter) MUTATION Allele 1a Allele 2b 1 10 R1162X 3041-71G/C,c 4002A/Gc 2 14 DF508 3 30 R1162X R117H 4 21 DF508 E527G 5 8 DF508 6 12 N1303K, 2622ϩ14G/Ad 7 6 DF508 8 20 DF508 1716G/Ac 9 16 DF508 10 10 DF508 11 19 R1162X 12 19 N1303K 13 12 G542X 1716G/Ac 14 32 DF508 15 14 DF508 16 26 N1303K 2622ϩ14G/Ac 17 18 DF508 Y301C 18 18 2183AArG a First mutation found, assigned to one gene. Login to comment