First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

Atqah AbdulWahab; Amal AlNaimi; Basel Habra; Ibrahim Janahi

doi:10.5339/qmj.2021.24

First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

Qatar Med J. 2021 Jul 26;2021(1):24. doi: 10.5339/qmj.2021.24. eCollection 2021.

Authors

Atqah AbdulWahab, Amal AlNaimi, Basel Habra¹, Ibrahim Janahi

Affiliation

¹ Department of Paediatric Medicine, Hamad Medical Corporation, Doha, Qatar.

Abstract

We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and distribution of this mutation in Arab countries.

Keywords: Qatar; cystic fibrosis; p. Phe508del mutation.

Publication types

Case Reports