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Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population

Osama Essawi (UGent) , Mohammad A Farraj, Kim De Leeneer (UGent) , Wouter Steyaert (UGent) , Katia De Pauw (UGent) , Anne De Paepe (UGent) , Kathleen Claes (UGent) , Tamer Essawi and Paul Coucke (UGent)
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Abstract
An extensive molecular analysis of the CF transmembrane regulator (CFTR) gene was performed to establish the CFTR mutation spectrum and frequencies in the Palestinian population, which can be considered as an understudied population. We used a targeted Next Generation Sequencing approach to sequence the entire coding region and the adjacent sequences of the CFTR gene combined with MLPA analysis of 60 unrelated CF patients. Eighteen different CF-causing mutations, including one previously undescribed mutation p.(Gly1265Arg), were identified. The overall detection rate is up to 67%, and when we consider only CF patients with sweat chloride concentrations >70 mEq/L, we even have a pickup rate of 92%. Whereas p.(Phe508del) is the most frequent allele (35% of the positive cases), 3 other mutations c.2988+1Kbdel8.6Kb, c.1393-1G>A, and p.(Gly85Glu) showed frequencies higher than 5% and a total of 9 mutations account for 84% of the mutations. This limited spectrum of CF mutations is in agreement with the homozygous ethnic origin of the Palestinian population. The relative large portion of patients without a mutation is most likely due to clinical misdiagnosis. Our results will be important in the development of an adequate molecular diagnostic test for CF in Palestine.
Keywords
IDENTIFICATION, ARABS, ISRAEL, CFTR GENE

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Chicago
Essawi, Osama, Mohammad A Farraj, Kim De Leeneer, Wouter Steyaert, Katia De Pauw, Anne De Paepe, Kathleen Claes, Tamer Essawi, and Paul Coucke. 2015. “Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population.” Disease Markers.
APA
Essawi, O., Farraj, M. A., De Leeneer, K., Steyaert, W., De Pauw, K., De Paepe, A., Claes, K., et al. (2015). Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population. DISEASE MARKERS.
Vancouver
1.
Essawi O, Farraj MA, De Leeneer K, Steyaert W, De Pauw K, De Paepe A, et al. Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population. DISEASE MARKERS. 2015;
MLA
Essawi, Osama, Mohammad A Farraj, Kim De Leeneer, et al. “Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population.” DISEASE MARKERS (2015): n. pag. Print.
@article{5848129,
  abstract     = {An extensive molecular analysis of the CF transmembrane regulator (CFTR) gene was performed to establish the CFTR mutation spectrum and frequencies in the Palestinian population, which can be considered as an understudied population. We used a targeted Next Generation Sequencing approach to sequence the entire coding region and the adjacent sequences of the CFTR gene combined with MLPA analysis of 60 unrelated CF patients. Eighteen different CF-causing mutations, including one previously undescribed mutation p.(Gly1265Arg), were identified. The overall detection rate is up to 67\%, and when we consider only CF patients with sweat chloride concentrations {\textrangle}70 mEq/L, we even have a pickup rate of 92\%. Whereas p.(Phe508del) is the most frequent allele (35\% of the positive cases), 3 other mutations c.2988+1Kbdel8.6Kb, c.1393-1G{\textrangle}A, and p.(Gly85Glu) showed frequencies higher than 5\% and a total of 9 mutations account for 84\% of the mutations. This limited spectrum of CF mutations is in agreement with the homozygous ethnic origin of the Palestinian population. The relative large portion of patients without a mutation is most likely due to clinical misdiagnosis. Our results will be important in the development of an adequate molecular diagnostic test for CF in Palestine.},
  articleno    = {458653},
  author       = {Essawi, Osama and Farraj, Mohammad A and De Leeneer, Kim and Steyaert, Wouter and De Pauw, Katia and De Paepe, Anne and Claes, Kathleen and Essawi, Tamer and Coucke, Paul},
  issn         = {0278-0240},
  journal      = {DISEASE MARKERS},
  language     = {eng},
  pages        = {6},
  title        = {Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population},
  url          = {http://dx.doi.org/10.1155/2015/458653},
  year         = {2015},
}

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