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

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.

Advances in Cystic Fibrosis Research in Qatar: A Commentary

“…The CFTR I1234V mutation is predominantly involved in pediatric cases [ 12 ], and was first introduced in 2001 in families with high consanguinity [ 13 ]. More recently in 2021, the second gene mutation was identified in Qatar when two children were detected with the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation [ 14 ]. The presence of other mutations was also reported, including the homozygous N1303K [ 15 ] and the 1525-1G > A [ 16 ].…”

A comprehensive review of cystic fibrosis in Africa and Asia

“…This includes Bahrain at 1:5800–7700, Jordan 1:2560, Kuwait 1:3500, Oman 1:2410, Saudi Arabia 1:4243, United Arab Emirate (UAE) 1:15876, Egypt 1:2664, and Morocco 1:1680 live births ( Hamouda et al, 2020 ). Even though the F508del variant was not the most common, it was a common variant among the Arab countries both in West Asia and North Africa that include Saudi Arabia, United Arab Emirates (UAE), Oman, Lebanon, Jordan, Syria, Qatar, Algeria, Egypt, and Tunisia ( Banjar and Angyalosi, 2015 , AbdulWahab et al, 2021 ).…”

“…Variant c.3700A>G was identified as the most common (65–66.7%) within population in Qatar ( Hamouda et al, 2020 , AbdulWahab et al, 2021 ). This variant was first described in South France ( AbdulWahab et al, 2021 ). The c.1521_1523delCTT variant (15.5%) was also identified within the population of Qatar.…”