Volume 2000, Issue 2
  • ISSN: 0253-8253
  • EISSN: 2227-0426


Advances in molecular genetics have now established that Cystic Fibrosis (CF) is due to DNA variations which modify the sequence, structure, function and/or expression of the CF transmembrane conductance regulator (CFTR) gene. To date over 885 such variations have been described. However, worldwide 65% of all CFTR gene mutations are a result of the DF508 mutation.


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  1. Welsh MJ, Tsui LC, Boat TF, Beaudet AL. Cystic fibrosis. The metabolic basis of inherited disease. 7th ed. New York: McGraw-Hill 1995;:37993876.
    [Google Scholar]
  2. Al-Uwihare APR. Cystic fibrosis in Kuwait. Lancet. 1981; 2::1056. (letter).
    [Google Scholar]
  3. Banjar H, Mogarri F, Meyer BF, Al Hamed M, Kambouris M. Genetic and clinical data of cystic fibrosis patients in a tertiary care centre in Saudi Arabia. Kuwait Medical Journal. 1998; 30::312316.
    [Google Scholar]
  4. Issa ARA, Teebi AS, Issa MA, Shaabani FS, Ramadan DJ. Metabolic alkalosis in cystic fibrosis atypical presentation in Kuwait. Annals of Tropical Paediatrics. 1988; 8::271272.
    [Google Scholar]
  5. Dawson KP, Amirlak I. Pseudo-Bartter's syndrome in an Omani infant. Middle East Paediatrics. 1997; 4::2526.
    [Google Scholar]
  6. Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M. Cystic fibrosis in Lebanon: distribution ofCFTR mutations among Arab communities. Human Genetics. 1997; 100::279283.
    [Google Scholar]
  7. Wahib AA, Al-Thani G, Dawood ST, Kambouris M, Al Hamed MD. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation I1234V. 2nd Qatari International Pediatric Conference, Doha, April 2000.
  8. El-Harith EA, Dork T, Stuhrmann M, Abu-Srair H, Al-Shahri A, Keller K-M, Lentze MJ, Schmidtke J. Novel and characteristic CFTR mutation in Saudi Arab children with severe cystic fibrosis. Journal of Medical Genetics. 1997; 34::996999.
    [Google Scholar]
  9. Frossard PM, Herticant J, Bossaert Y, Dawson KP. Genotypephenotype correlations in cystic fibrosis: clinical severity of mutation S549R (T>G). European Respiratory Journal. 1999; 13::100102.
    [Google Scholar]
  10. Frossard PM, Dawson KP, Das SJ, Alexander PC, Girodon E, Goossens M. Identification of cystic fibrosis mutation in Oman. Clinical Genetics. 2000; 57::235236.
    [Google Scholar]
  11. Frossard PM, Abdelaziz DA, Herticant J, Girodon E, Goossens M, Dawson KP. Mild clinical phenotype associated with R X/S549R (T>G) CFTR genotype. Clinical Genetics. 2000;:1158. (in press).
    [Google Scholar]
  • Article Type: Editorial
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