ABCMdb

PMID: 7692049

Bienvenu T, Beldjord C, Fonknechten N, Kaplan JC, Lenoir G
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
J Med Genet. 1993 Jul;30(7):621-2., [PubMed]

Sentences

No. Mutations Sentence Comment

48 ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Trp1316* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Ser1255* Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene Several homozygous nonsense mutations in the CFTR gene (S1255X/G542X, W1316X/ R553X, G542X/G542X, R553X/R553X, and RI 162X/R1 162X) have been reported. Login to comment 52 ABCC7 p.Gly542* We present the clinical and molecular findings in a child homozygous for G542X with severe pancreatic and pulmonary disease. This Turkish boy was born at term (birth weight 3200 g) and presented with meconium ileus, successfully treated with enemas. Login to comment 59 ABCC7 p.Gly542* A homozygous G542X mutation was found by DGGE and identified by exon 11 group.bmj.comon October 25, 2012 - Published byjmg.bmj.comDownloaded from Letters to the Editor amplification using a modified primer on the 5' side of codon 542 and subsequent digestion with BstNI.5 The mutation (G-'T at 1756) was characterised by direct sequencing using the Sequenase USB kit by standard methods. Login to comment 60 ABCC7 p.Gly542* G542 is a nonsense mutation in which a glycine at codon 542 is replaced with a stop codon G542X in the cystic fibrosis transmembrane conductance regulator gene.' This boy has a severe lung involvement, meconium ileus, and pancreatic insufficiency, as indicated by the high degree of steatorrhoea. Login to comment 74 ABCC7 p.Arg553* J Med Genet 1992;29:558-62. 5 Bal J, Stuhrmann M, Schloesser M, et al. A cystic fibrosis patient homozygous for the nonsense mutation R553X. Login to comment 76 ABCC7 p.Arg553* Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. Login to comment