Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

Hanaa Banjar; Ibrahim Al-Mogarri; Imran Nizami; Sami Al-Haider; Talal AlMaghamsi; Sara Alkaf; Abdulaziz Al-Enazi; Nabil Moghrabi

doi:10.1016/j.ijpam.2019.12.002

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

Int J Pediatr Adolesc Med. 2021 Mar;8(1):25-28. doi: 10.1016/j.ijpam.2019.12.002. Epub 2019 Dec 10.

Authors

Hanaa Banjar¹, Ibrahim Al-Mogarri¹, Imran Nizami², Sami Al-Haider¹, Talal AlMaghamsi³, Sara Alkaf⁴, Abdulaziz Al-Enazi¹, Nabil Moghrabi⁵

Affiliations

¹ Department of Pediatrics, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
² Organ Transplant Center, (King Faisal Specialist Hospital and Research Center), Riyadh, Saudi Arabia.
³ Department of Pediatrics, King Faisal Specialist Hospital and Research Center (KFSHRC), Jeddah, Saudi Arabia.
⁴ Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
⁵ Department of Genetics, Molecular Diagnostic Laboratory, The Research Center, KFSHRC, Riyadh, Saudi Arabia.

Abstract

Introduction: Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.

Objectives: To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia.

Methodology: A retrospective chart review of all CFTR variants conducted from January 1, 1992 to December 1, 2017.

Results: The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with other variants 79 (20%). In terms of the highest frequency, the c.2988+1G > A (3120+1G > A) variant was found in the eastern province (7.3%) of Saudi Arabia, the c.1418delG (p.Gly473GlufsX54) variant in the northern province (6.8%), the c.579+1G > T (711+1G > T) variant in the southern province (4.8%), the c.3700A > G (p.Ile1234Val) variant in the central province (4.8%), and c.1521_1523delCTT (p.Phe508del) variant in the western province (4.3%).

Conclusion: The eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G > A (3120+1G > A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized.

Keywords: Arab; CFTR; Cystic fibrosis; Geographic distribution; Saudi Arabia.