DOI: 10.12890/2023_003728

Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T)

Authors

  • Sumaiya Hafiz Cleveland Clinic, Abu Dhabi, United Arab Emirates
  • Sarah Al Qassimi Cleveland Clinic, Abu Dhabi, United Arab Emirates
  • Ali Saeed Wahla Cleveland Clinic, Abu Dhabi, United Arab Emirates
  • Mahmoud El-Kaissi Cleveland Clinic, Abu Dhabi, United Arab Emirates
  • Mateen Uzbek Cleveland Clinic, Abu Dhabi, United Arab Emirates
  • Irfan Shafiq Cleveland Clinic, Abu Dhabi, United Arab Emirates

irfanshafiq@gmail.com

Keywords

Cystic fibrosis, Middle East, CFTR mutation, c.80G>T

Abstract

Cystic fibrosis (CF) is a common autosomal recessive disorder which is mainly found in Caucasians but has also been reported in Asian populations. CF is primarily caused by mutations in the CFTR gene which regulates the transport of chloride ions across the cell membrane. We describe the cases of two siblings with CF diagnosed with the rare missense mutation c.80G>T, which has only been referenced once in the literature and shows a possible association with classical form of CF.

 

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References

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Published

2023-02-03

Issue

Vol. 10 No. 1 (2023)

Categories

How to Cite

1.
Hafiz S, Al Qassimi S, Wahla AS, El-Kaissi M, Uzbek M, Shafiq I. Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T). EJCRIM [Internet]. 2023 Feb. 3 [cited 2026 Nov. 3];10(1). Available from: https://ejcrim.com/index.php/ejcrim/article/view/3728

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