• Talal AlMaghamsi, Naeem Iqbal, Nabil Abdullrahman Al-Esaei, Muhsina Mohammed, Kamel Zein Eddin, Fatima Ghurab, Nabil Moghrabi, Emily Heaphy, and Islam Junaid.
• From the Department of Pediatrics, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia.
• Ann Saudi Med. 2020 Jul 1; 40 (4): 321-329.

BackgroundSome mutations of the cystic fibrosis transmembrane regulator (CFTR) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility.ObjectiveAssess the frequency and analyze the spectrum of CFTR gene variations in Saudi men with primary infertility.DesignProspective, cross-sectional.SettingTertiary care specialist hospital in Jeddah.Patients And MethodsGenomic DNA was extracted from peripheral blood samples of Saudi men who presented with primary infertility to the outpatient andrology clinic with either azoospermia or oligoasthenoteratozoospermia. Polymerase chain reaction and direct sequencing were used to identify all variants of the CFTR gene.Main Outcome MeasuresProportion of the patients with a mutant CFTR gene and the spectrum of CFTR gene variations.Sample Size50 infertile Saudi men.ResultsThis study identified 10 CFTR gene variants in 7 (14%) subjects (100 chromosomes). The detected variants and polymorphisms were: c.1408G>A, c.4389G>A, c.2562T>G, c.869+11C>T, c.2909-92G>A, c.3469-65C>A, c.1210-6delT, c.1210-6T>A, c.2988+1G>A, and c.1210-13GT>TG.ConclusionWe demonstrated that 14% of the study subjects had one or more CFTR mutations and these were compounded in most of the affected patients. The spectrum of CFTR gene mutations in these subjects was similar to the mutations reported in other studies throughout the world.LimitationsSmall sample size and the lack of a control group.Conflicts Of InterestNone.

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