ABCMdb

PMID: 7689013

Reiss J, Ellermeyer U, Rininsland F, Ballhausen P, Lenz U, Wagner S, Schlosser M
A comprehensive CFTR mutation analysis of German cystic fibrosis patients.
Hum Mol Genet. 1993 Jun;2(6):809-11., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Trp1282* In exon 20, the mutation W1282X (7) was found three times and the mutation 39O5insT (8) was detected once by direct fluorescence sequencing of PCR products using a 37OA (Applied Biosystems, Foster City, USA) and the 'dye primer' or 'dye terminator' protocol, respectively. Login to comment 10 ABCC7 p.Gly542* Of these patients, 8 were heterozygous for AF508, one was heterozygous for G542X and for one, no mutation was known. Login to comment 12 ABCC7 p.Met1101Lys ABCC7 p.Arg117Pro ABCC7 p.Glu1104* Since a variety of mutations were reported in exons 4, 17b and 19 (e.g. 10, 4, 5, 11), these exons were chosen for direct sequence analysis. This revealed one novel mutation in exon 4 (R117P) and two novel mutations in exon 17b (E1104X, M1101K). Login to comment 13 ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Arg117Pro R117P (CGC-CCQ was found in the patient with the G542X allele and confirmed by family analysis. This mutation is the only novel one we have found in the 5' part of the CFTR gene and replaces the same nucleotide as the former described mutation R117H (10). Login to comment 15 ABCC7 p.Arg117Pro This mechanism cannot be held responsible for the R117P substitution CGC-CCC. Login to comment 26 ABCC7 p.Arg1162* Sequencing of exon 19 revealed one R1162X mutation (11). Login to comment 56 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Arg Frequency of CFTR mutations checked routinely in German CF patients Mutation AF508 AI507 R553X G542X G551D R347P N1303K 1717 -lg-a S549R others in exon total Exon 10 10 11 11 11 7 21 llfb) 11 ll(c) Frequency 375/500 1/500 17/124(a) 13/124 7/124 6/124 6/124 5/124 2/124 0/124 % of total CF chromosomes 75.1 0.2 3.4 2.6 1.4 1.2 1.2 1.0 0.4 0.0 86.5 Reference (3) (17) (18) (17) (18) (10) (19) (17) (17) (20) (a) Non-AF508 chromosomes. Login to comment 59 ABCC7 p.Glu1104* O O A A C I I C T C T A t C Q R117Pt ^ f 2789+5G-)A T T A C H O T I O ]L T » T T A A T T C C A A H Q O A AT t 3121-2A->G MllOlKt O A O A A T A A T O A E1104X t 4382delA t Figure 2. Login to comment 66 ABCC7 p.Met1101Lys ABCC7 p.Arg117Pro Novel CFTR mutations Mutation R117P (CGC-CCQ 2789+5G-A 3121-2A-G M1101K (ATG-AAG) E11O4X (GAA-TAA) 4382ddA Exon 4 14b(a) 17a(b) 17b 17b 24 Ethnic origin German Spanish German German Arabian Italian (a) Splice site mutation downstream of exon 14b. Login to comment