Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
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.
Gasparini
P
P
Institute of Biological Sciences, University of Verona, Italy.
Borgo
G
G
Mastella
G
G
Bonizzato
A
A
Dognini
M
M
Pignatti
P F
PF
D000255:Adenosine Triphosphate / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D006720:Homozygote; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000503:physiopathology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010179:Pancreas / Q000503:physiopathology
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D000255:Adenosine Triphosphate