Disease severity associated with cystic fibrosis mutations deltaF508 and S549R[T-G]

ABSTRACT

We compared the clinical severity associated with the two cystic fibrosis [CF] mutations S549R[T[R]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[R]G] and delta F508 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[R]G] have a severe clinical presentation and illness and are indistinguishable on clinical grounds