• Hanaa Hasan Banjar, Lin Tuleimat, Abdul Aziz Agha El Seoudi, Ibrahim Mogarri, Sami Alhaider, Imran Yaqoob Nizami, Talal AlMaghamsi, Sara Andulrahman Alkaf, and Nabil Moghrabi.
• From the Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
• Ann Saudi Med. 2020 Jan 1; 40 (1): 152415-24.

BackgroundCystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles.ObjectiveDetermine the pattern of CFTR variants in the CF population of Saudi Arabia.DesignA retrospective, descriptive.SettingTertiary care center.Patients And MethodsWe examined the medical records of 396 confirmed CF patients of all age groups that were positive for a CFTR variant from the period of 1 January 1998 to 1 December 2017.Main Outcome MeasuresZygosity, morbidity and mortality patterns of different types of CFTR variants.Sample Size312 families that included 396 patients.ResultsOf 48 variants identified, 6 were novel, having not been described in the medical literature. A homozygous state was found in 283 families (90.7%) and compound heterozygosity in 23 (7.4%). Six families were heterozygous (1.9%). Median age (interquartile range) was 10.2 months (4.4 months to 5.7 years) at diagnosis and 9.7 (5.4-16.5) years at follow up. Of 396 patients, 378 patients (95.5%) survived and 18 (4.5%) died. The ten most common variants identified in descending frequency were: p.Gly473GlufsX54 in 98 alleles (16%), p.Ile1234Val in 66 alleles (11%), F508del in 64 alleles (11%), 711+1G>T in 62 alleles (10%), 3120+1G>A in 62 alleles (11%), p.His139Leuin 38 alleles (6.4%), p.Gln637Hisfs in 30 alleles (5.2%), p.Ser549Arg in 27 alleles (4.5%), p.Asn1303Lys in 14 alleles (2.3%), delExon19-21in 10 alleles (1.6%). This analysis identified 79.2% of our CFTR variants.ConclusionCFTR mutational patterns in our CF population are characterized by a high allelic heterogeneity. The high prevalence of homozygous variants reflects the high level of consanguinity between parents.LimitationsOur CFTR screening reflected only about 80% of CF patients in Saudi Arabia.Conflict Of InterestNone.

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