Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G).
We compared the clinical severity associated with the two cystic fibrosis (CF) mutations S549R(T-->G) and deltaF508. Clinical and biochemical variables of CF were compared in two age- and sex-matched groups of CF children in the United Arab Emirates (UAE). The clinical severity of mutations S549R(T-->G) and deltaF508 showed comparable patterns, with very low Shwachman scores and high sweat chloride levels. We conclude that patients homozygous for the CF mutations deltaF508 and S549R(T-->G) have a severe clinical presentation and illness and are indistinguishable on clinical grounds.
Dawson
K P
KP
Department of Paediatrics, Faculty of Medicine and Health Science, UAE University, Al-Ain, United Arab Emirates.
Frossard
P M
PM
Al-Awar
B
B
D019943:Amino Acid Substitution / Q000235:genetics; D018912:Arabs; D002648:Child; D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006147:Guanine; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index; D013542:Sweat / Q000737:chemistry; D013941:Thymine; D014479:United Arab Emirates / Q000453:epidemiology
C505032:CFTR protein, human; D002712:Chlorides; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006147:Guanine; D013941:Thymine