ABCMdb

PMID: 7686577

Lissens W, Desmyttere S, Bonduelle M, Dab I, Liebaers I, Mercier B, Audrezet MP, Ferec C
Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.
J Med Genet. 1993 May;30(5):446., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCC7 p.Trp1282* '-' However, on the basis of the large variation in lung function in patients homozygous for the most common CF mutation, AF508, and W1282X homozygotes,5 it was concluded that most CF patients have a common phenotype, but that other genetic and environmental factors may be important for the clinical phenotype.7 We describe a patient, homozygous for a frameshift mutation in the regulatory (R) domain of the CFTR, who presented with mild lung disease but severe hepatic and pancreatic involvement. Login to comment 59 ABCC7 p.Arg553* Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. Login to comment 63 ABCC7 p.Arg553* 5 Bal J, Stuhrmann M, Schloesser M, et al. A cystic fibrosis patient homozygous for the nonsense mutation R553X. Login to comment 65 ABCC7 p.Trp1282* 6 Shoshan T, Augarten A, Gazit E, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Login to comment