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

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.

 

VIEW THE ENTIRE ARTICLE

References

  • Davies JC, Alton EWFW, Bush A. Cystic fibrosis. BMJ 2007 Dec 15;335(7632):1255–1259.
  • Norek A, Stremska M, Sobczynska-Tomaszewska A, Wertheim-Tysarowska K, Dmenska H, Jurek M. Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype. J Pediatr 2011 Aug 1;159(2):343–346.e1.
  • Boeck KD, Zolin A, Cuppens H, Olesen HV, Viviani L. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. J Cyst Fibros 2014 Jul 1;13(4):403–409.
  • Shafiq I, Shabeer S, Uzbeck MH, Zoumot Z, Abuzakouk M, Wahla AS. Genetic and clinical demographics of adult cystic fibrosis patients in a Middle Eastern population. Turk Thorac J 2021 Jul 14;22(4):279–283.
  • Zietkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M. CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. PloS One 2014 Feb 26;9(2):e89094.
  • Panickar J, Al Nuaimi A. CF mutations in United Arab Emirates. J Cyst Fibros 2016;15(1):S52.

    • Views: 269
    HTML downloads: 53
    PDF downloads: 297

    Published: 2023-02-03
    Issue: 2023: Vol 10 No 1 (view)

    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 2023;10 doi:10.12890/2023_003728.

    Most read articles by the same author(s)