Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a condition usually caused by a single gene mutation and manifested by both renal and extrarenal features, eventually leading to end-stage renal disease (ESRD) by the median age of 60 years worldwide. Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations. The majority (85%) of the mutations are in the PKD1 gene, especially in the context of family history. Objectives: This study investigated the genetic basis and the undiscovered genes that are involved in ADPKD development among the Saudi population. Materials and Methods: In this study, 11 patients with chronic kidney disease were enrolled. The diagnosis of ADPKD was based on history and diagnostic images: CT images include enlargement of renal outlines, renal echogenicity, and presence of multiple renal cysts with dilated collecting ducts, loss of corticomedullary differentiation, and changes in GFR and serum creatinine levels. Next-generation whole-exome sequencing was conducted using the Ion Torrent PGM platform. Results: Of the 11 Saudi patients diagnosed with chronic kidney disease (CKD) and ADPKD, the most common heterozygote nonsynonymous variant in the PKD1 gene was exon15: (c.4264G > A). Two missense mutations were identified with a PKD1 (c.1758A > C and c.9774T > G), and one patient had a PKD2 mutation (c.1445T > G). Three detected variants were novel, identified at PKD1 (c.1758A > C), PKD2L2 (c.1364A > T), and TSC2 (deletion of a'a at the 3'UTR, R1680C) genes. Other variants in PKD1L1 (c.3813_381 4delinsTG) and PKD1L2 (c.404C > T) were also detected. The median age of end-stage renal disease for ADPK patients in Saudi Arabia was 30 years. Conclusion: This study reported a common variant in the PKD1 gene in Saudi patients with typical ADPKD. We also reported (to our knowledge) for the first time two novel missense variants in PKD1 and PKD2L2 genes and one indel mutation at the 3'UTR of the TSC2 gene. This study establishes that the reported mutations in the affected genes resulted in ADPKD development in the Saudi population by a median age of 30. Nevertheless, future protein-protein interaction studies to investigate the influence of these mutations on PKD1 and PKD2 functions are required. Furthermore, large-scale population-based studies to verify these findings are recommended

The Perception of Spectacles Use Among the General Population in Ha’il Region, Saudi Arabia: A Cross-Sectional Study

Nawaf Osaywid Alrashidi,1 Wafy Abdulrahman Albrak,1 Shaker Osaywid Alreshidi,2 Lama Abdulrahman Alaradi,3 Hatim Adam Nagi Adam,3 Naif Mamdouh Alali,4 Faris Hashem,4 Hani Basher Albalawi,4 Ahmed Yousef Alothman,5 Shaima Sulaiman Alharbi2 1College of Medicine, University of Ha’il, Ha’il, Saudi Arabia; 2Department of Ophthalmology, College of Medicine, Majmaah University, Majmaah, Saudi Arabia; 3Department of Community Medicine, College of Medicine, University of Ha’il, Ha’il, Saudi Arabia; 4Division of Ophthalmology, Department of Surgery, Faculty of Medicine, University of Tabuk, Tabuk, Saudi Arabia; 5Ophthalmology Department, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaCorrespondence: Faris Hashem, Email [email protected]: The study aims to assess the perception of optical spectacles use among the Ha’il region population in Saudi Arabia.Patients and Methods: A cross-sectional survey was distributed via various social media applications to the residents of the Ha’il region. An online questionnaire was designed and included informed consent and questions assessing the participants’ perceptions about wearing eyeglasses, contact lenses, and general eye health.Results: 32.4% of the participants think that long-term eyeglasses wearing worsens vision, and 43% think eyeglasses wearing improves vision. 75.2% believe that long-term use of glasses could cause lifetime dependency on eyeglasses. Regarding contact lenses, 45.9% believe that long-term wearing worsens vision, and 24.1% think long-term wearing of contact lenses improves vision. 60% think long-term use of lenses causes lifetime dependency on those contact lenses.Conclusion: Our results highlighted the misconceptions among the study population regarding wearing prescribed eyeglasses and contact lenses. Thus, education programs and media are warranted to correct the misconceptions about spectacles and raise the awareness about refractive errors and treatment options.Keywords: refractive errors, vision impairment, eyeglasses, contact lense

Co-circulation of three camel coronavirus species and recombination of MERS-CoVs in Saudi Arabia

Outbreaks of Middle East respiratory syndrome (MERS) raise questions about the prevalence and evolution of the MERS coronavirus (CoV) in its animal reservoir. Our surveillance in Saudi Arabia in 2014 and 2015 showed that viruses of the MERS-CoV species and a human CoV 229E-related lineage co-circulated at high prevalence, with frequent co-infections in the upper respiratory tract of dromedary camels. viruses of the betacoronavirus 1 species, we found that dromedary camels share three CoV species with humans. Several MERS-CoV lineages were present in camels, including a recombinant lineage that has been dominant since December 2014 and that subsequently led to the human outbreaks in 2015. Camels therefore serve as an important reservoir for the maintenance and diversification of the MERS-CoVs and are the source of human infections with this virus