ABCMdb

PMID: 10712334

Wilschanski M, Famini C, Blau H, Rivlin J, Augarten A, Avital A, Kerem B, Kerem E
A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations.
Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):860-5., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Trp1282* In the Ashkenazi Jewish population the W1282X mutation is the most common CF-causing mutation and together with other nonsense mutations accounts for 64% of all CFTR alleles (5-7). Login to comment 21 ABCC7 p.Trp1282* Subsequently, Bedwell and coworkers (10) have shown in a CF bronchial epithelial cell line carrying the CFTR W1282X premature stop mutation, that gentamicin was capable of restoring CFTR expression on the apical membrane. Login to comment 29 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* Four patients were homozygous for the W1282X mutation, three were compound heterozygous W1282X/ G542X, one patient was compound heterozygous W1282X/3849 ϩ 10kb C→T, and one patient was compound heterozygous W1282X/ ⌬F508. Login to comment 70 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Age (yr) FEV1 (% pred) Genotype 1 18 62 W1282X/W1282X 2 46 30 W1282X/W1282X 3 18 97 W1282X/W1282X 4 13 87 W1282X/W1282X 5 17 62 W1282X/G542X 6 23 60 W1282X/G542X 7 28 80 W1282X/G542X 8 38 44 W1282X/3849 ϩ 10kbC→T 9 12 73 W1282X/⌬F508 of gentamicin to increase the frequency of erroneous insertion of nonsense codons, thereby permitting the translation of CFTR alleles carrying missense mutations to continue reading to the end of the gene. Login to comment 84 ABCC7 p.Arg553* ABCC7 p.Gly542* Quantification studies have shown that after aminoglycoside incubation, the amount of full-length CFTR produced is as much as 25% (in the R553X mutation) to 35% (in the G542X mutation) of that observed in cells transfected with a wild-type CFTR complementary DNA (cDNA) (9, 10). Login to comment 87 ABCC7 p.Trp1282* One patient (Patient 8) who carried the W1282X/3849 ϩ 10kbC→Τ genotype showed a marked response which led to normalization of the nasal PD. Login to comment