Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. Issue 8 (August 1992)

• Record Type: Journal Article
• Authors: Gasparini, P; Borgo, G; Mastella, G; Bonizzato, A; Dognini, M; Pignatti, P F
• Is Part Of: Journal of medical genetics. Volume 29:Issue 8(1992)
• Page Start: 558
• Page End: 562
• Publication Date: 1992-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.29.8.558
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : The clinical course of nine cystic fibrosis patients homozygous for the CF gene nonsense mutation R1162X was investigated. Since this mutation should lead to an interruption in the synthesis of the cystic fibrosis transmembrane regulator (CFTR) protein, a severe clinical course was expected. All patients showed pancreatic insufficiency, while the course of the lung disease was mild to moderate. These results suggest that this form of truncated CFTR protein, still containing the regulatory region, the first ATP binding domain, and both transmembrane domains, could be partially working in the lung tissues.