ABCMdb

PMID: 7681035

Reiss J, Ellermeyer U, Schloesser M, Fuhrmann W, Drews D, Posselt HG
Two cystic fibrosis patients with the genotype G542X/G551D.
Hum Genet. 1993 Mar;91(1):78-9., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Login to comment 3 ABCC7 p.Gly551Asp ABCC7 p.Gly542* In the described patients, G542X functions as a "mild" allele and is, in this respect, dominant to the "severe" G551D. Login to comment 9 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Among these are the nonsense mutation G542X and the missense mutation G551D, which account for 2.6% and 1.4%, respectively, of CF alleles in the German population. Login to comment 10 ABCC7 p.Gly551Asp In a comprehensive study of 61 patients who were compound heterozygous for G551D/ AF508, no phenotypic difference was found compared with age-matched and sex-matched AF508 homozygotes (Hamosh et al. 1992). Login to comment 11 ABCC7 p.Gly542* The phenotypic effects of Stop codon mutations are controversial, especially with regard to patients homozygous for G542X (Cuppens et al. 1990; Kalaydjieva 1991). Login to comment 12 ABCC7 p.Gly542* We report here the phenotype of two adult patients with the genotype G551 D/G542X. Login to comment 29 ABCC7 p.Gly551Asp ABCC7 p.Arg553* R553X and G551D were screened by restriction enzyme digestion (Cutting et ah 1990), and other mutations within exon 11 by direct sequencing as described elsewhere (Plieth et al. 1992). Login to comment 34 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly542* The heterozygous signals reflecting the mutations G542X (left) and G551D (right) can be recognized by small peaks and are designated by N tion G551D. Login to comment 35 ABCC7 p.Gly551Asp ABCC7 p.Gly542* The exon 11 amplification product was then subjected to automated direct sequencing, which both confirmed the presence of a G551D mutation and detected heterozygosity for the Stop codon mutation G542X (Fig. Login to comment 42 ABCC7 p.Gly542* (1991) have both reported patients homozygous for the mutation G542X. Login to comment 44 ABCC7 p.Gly542* However, in the former study, two patients are described; the one assigned as having milder symptoms, was homozygous for G542X and was diagnosed earlier than her heterozygous nephew. Login to comment 46 ABCC7 p.Gly542* The relatively mild cystic fibrosis in patients homozygous for G542X has been confirmed by the report of Bonduelle et al. Login to comment 48 ABCC7 p.Gly551Asp It also seems justified to classify G551D as a severe allele (Hamosh et al. 1992). Login to comment