Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G)

K P Dawson; P M Frossard; B Al-Awar

Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G)

East Mediterr Health J. 2001 Nov;7(6):975-80.

Authors

K P Dawson¹, P M Frossard, B Al-Awar

Affiliation

¹ Department of Paediatrics, Faculty of Medicine and Health Science, UAE University, Al-Ain, United Arab Emirates.

PMID: 15332739

Abstract

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.

Publication types

Comparative Study

MeSH terms

Amino Acid Substitution / genetics
Arabs
Child
Child, Preschool
Chlorides / analysis
Cystic Fibrosis / classification
Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
DNA Mutational Analysis
Female
Genotype
Guanine
Homozygote
Humans
Male
Mutation / genetics*
Phenotype
Polymerase Chain Reaction
Severity of Illness Index*
Sweat / chemistry
Thymine
United Arab Emirates / epidemiology

Substances

CFTR protein, human
Chlorides
cystic fibrosis transmembrane conductance regulator delta F508
Cystic Fibrosis Transmembrane Conductance Regulator
Guanine
Thymine