Primary congenital glaucoma (PCG) is a rare glaucoma type that develops in early infantile period and contributes to an elevated pressure on ocular cavity. Variants in CYP1B1 gene are the most enco...

Genetic counseling services have only recently been introduced in most Arab countries, and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the Arab context, which is characterized by high rates of consanguinity. Nevertheless, little is known about the decisions faced by parents and the factors underlying the complex decision making that must occur when accessing these services in Arab countries. Herein, we performed a narrative review to discuss the reported experiences of parents accessing genetic counseling in the prenatal setting in the 22 Arab countries. We also highlight the different types of decisions encountered and the factors influencing them. We report that: (i) utilization of genetic counseling services varies across different Arab countries; (ii) many factors affect decision making and service utilization, especially religion; and (iii) parents are faced with an array of decisions in the prenatal setting, partly driven by increased utilization of prenatal diagnosis and preimplantation genetic testing in some countries. Our work is the first to highlight the different factors and decisions influencing genetic counseling in Arab countries. Understanding these factors is essential for improving genetic counseling services in the region and helping counselors facilitate informed decision making.

Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the genetic basis of G6PDD in the Qatari population yet. Methods: In this study, we analyzed whole-genome sequencing data generated by the Qatar Genome Programme for 6045 Qatar Biobank participants, to identify G6PDD variants in the Qatari population. In addition, we assessed the impact of the novel variants identified on protein function both in silico and by measuring G6PD enzymatic activity in the subjects carrying them. Results: We identified 375 variants in/near G6PD gene, of which 20 were high-impact and 16 were moderate-impact variants. Of these, 14 were known G6PDD-causing variants. The most frequent G6PD-causing variants found in the Qatari population were p.Ser188Phe (G6PD Mediterranean), p.Asn126Asp (G6PD A +), p.Val68Met (G6PD Asahi), p.Ala335Thr (G6PD Chatham), and p.Ile48Thr (G6PD Aures) with allele frequencies of 0.0563, 0.0194, 0.00785, 0.0050, and 0.00380, respectively. Furthermore, we have identified seven novel G6PD variants, all of which were confirmed as G6PD-causing variants and classified as class III variants based on the World Health Organization’s classification scheme. Conclusions: This is the first study investigating the molecular basis of G6PDD in Qatar, and it provides novel insights about G6PDD pathogenesis and highlights the importance of studying such understudied population.

Background/Aims: The irregular Z-line, defined as a segment of columnar mucosa less than 1 cm in the distal esophagus, is often biopsied despite guidelines advising against it due to a low risk of progression to esophageal adenocarcinoma (EAC). However, the clinical significance of an irregular Z-line remains unclear. This meta-analysis examines the prevalence of Barrett’s esophagus, dysplasia, and EAC in patients with an irregular Z-line.Methods: We searched Medline, Embase, and Scopus databases up to October 2023 for studies on the prevalence of Barrett’s esophagus, dysplasia, and EAC in these patients. A random-effects model was used for meta-analysis, and heterogeneity was assessed using I2 statistics.Results: Nine studies involving 17,637 patients were analyzed. Among those with an irregular Z-line, the prevalence of intestinal metaplasia was 29.4%. In patients with intestinal metaplasia, dysplasia was found in 6.2%, low-grade dysplasia in 5.9%, high-grade dysplasia in 1.6%, and EAC in 1.5%. These rates were higher compared to those without intestinal metaplasia.Conclusions: Patients with an irregular Z-line and intestinal metaplasia may be at higher risk and could benefit from endoscopic surveillance. Further studies are needed to determine the necessity of biopsying irregular Z-lines.