ABCMdb

PMID: 7512145

Desgeorges M, Laussel M, Rollin B, Demaille J, Claustres M
Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
J Med Genet. 1994 Jan;31(1):84-5., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCC7 p.Gly542* Using the SSCP technique" to study the DNA extracted from the patient and her family, we detected then identified the stop mutation G542X in the two CFTR genes transmitted to the affected child. Login to comment 45 ABCC7 p.Gly542* The stop mutation G542X is predicted to result in decreased levels of mutant messenger RNA"2 and in a truncated CFTR protein from NBD-1,' suppressing 63% of the molecule. Login to comment 46 ABCC7 p.Gly542* However, the homozygous patients for G542X previously reported had mild pulmonary disease,""5'° which would imply alternative splicing mechanisms suppressing the effect of the stop mutation in some tissues. Login to comment 47 ABCC7 p.Gly542* Contrasting with these reports, we present the second case ofa child homozygous for G542X with severe pancreatic and lung disease. Login to comment 60 ABCC7 p.Arg553* J Med Genet 1992;29:558-62. 7 Bal J, Stuhrmann M, Schloesser M, et al. A cystic fibrosis patient homozygous for the nonsense mutation R553X. Login to comment 61 ABCC7 p.Arg553* J Med Genet 1991;28:715-17. 8 Cheadle J, Al-Jader L, Goodchild M, Meredith AL. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. Login to comment 98 ABCC7 p.Gly542* Also the intrafamilial heterogeneity of cystic fibrosis, perhaps because of other modifying loci, makes it plausible that 85 group.bmj.comon October 25, 2012 - Published byjmg.bmj.comDownloaded from doi: 10.1136/jmg.31.1.84-a 1994 31: 84-85J Med Genet M Desgeorges, M Laussel, B Rollin, et al. cystic fibrosis child homozygous for G542X. Login to comment