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

K P Dawson1, P M Frossard, B Al-Awar

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

Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-Majallah Al-Sihhiyah Li-Sharq Al-Mutawassit
|August 31, 2004
PubMed

Insights

The cystic fibrosis (CF) mutations S549R(T-->G) and deltaF508 present similarly severe clinical symptoms in children. These CF mutations result in comparable illness severity, making them indistinguishable based on clinical presentation.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Pulmonology

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Specific CFTR gene mutations influence disease severity.
  • Understanding mutation-specific clinical presentations is crucial for patient management.

Purpose of the Study:

  • To compare the clinical severity of two distinct cystic fibrosis mutations: S549R(T-->G) and deltaF508.
  • To evaluate clinical and biochemical variables in children with these CF mutations in the United Arab Emirates (UAE).

Main Methods:

  • Comparative analysis of clinical and biochemical data.
  • Age- and sex-matched cohorts of pediatric CF patients in the UAE.
  • Assessment of Shwachman scores and sweat chloride levels.

Main Results:

  • Both S549R(T-->G) and deltaF508 homozygous mutations exhibited severe clinical phenotypes.
  • Patients displayed comparable very low Shwachman scores, indicating significant pancreatic insufficiency.
  • High sweat chloride levels were observed in both groups, consistent with CF diagnosis.

Conclusions:

  • The CF mutations deltaF508 and S549R(T-->G) lead to indistinguishable severe clinical presentations.
  • Homozygous patients for these mutations show comparable disease severity on clinical grounds.
  • This finding aids in understanding genotype-phenotype correlations in cystic fibrosis.

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