Detection of a new deleterious gene variant in Moroccan family with inherited myoclonus-dystonia.

Myoclonus-dystonia (M-D) is a pleiotropic neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in ξ-sarcoglycan gene SGCE are the most frequently known genetic cause of M-D with maternal imprinting, and in most cases, a symptomatic individual inherits the pathogenic variant from his or her father. This work reported a missense mutation c.

A laboratory-based study of COVID-19 in Casablanca, Morocco.

Given the spread of coronavirus disease 2019 (COVID-19) and its impact on human health, laboratory confirmation of diagnosis is essential. This study examined the contribution of laboratory diagnosis to the detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the diagnosis of COVID-19, taking into account patient risk of exposure to SARS-CoV-2, clinical symptoms and comorbidities. A cross-sectional, laboratory-based study was carried out from 1 April 2020 to 30 April 2020 at the National Reference Laboratory in Morocco using nasopharyngeal samples from patients admitted to the Cheikh Khalifa International University Hospital or other hospitals in Casablanca.

A review on current diagnostic techniques for COVID-19.

Introduction: SARS-Cov-2 first appeared in Wuhan, China, in December 2019 and spread all over the world soon after that. Given the infectious nature ofSARS-CoV-2, fast and accurate diagnosis tools are important to detect the virus. In this review, we discuss the different diagnostic tests that are currently being implemented in laboratories and provide a description of various COVID-19 kits.

Large scale genomic analysis of 3067 SARS-CoV-2 genomes reveals a clonal geo-distribution and a rich genetic variations of hotspots mutations.

In late December 2019, an emerging viral infection COVID-19 was identified in Wuhan, China, and became a global pandemic. Characterization of the genetic variants of SARS-CoV-2 is crucial in following and evaluating it spread across countries. In this study, we collected and analyzed 3,067 SARS-CoV-2 genomes isolated from 55 countries during the first three months after the onset of this virus.

Association of c.56C > G (rs3135506) Apolipoprotein A5 Gene Polymorphism with Coronary Artery Disease in Moroccan Subjects: A Case-Control Study and an Updated Meta-Analysis.

Purpose: Coronary artery diseases (CAD) are clinical cardiovascular events associated with dyslipidemia in common. The interaction between environmental and genetic factors can be responsible for CAD. The present paper aimed to examine the association between c.

Cytogenetic and FISH analysis of 93 multiple myeloma Moroccan patients.

Background: Multiple myeloma (MM) is a disease characterized by heterogeneous clinical presentations as well as complex genetic and molecular abnormalities. In MM, cytogenetic analysis is a challenge because of the low proliferation of malignant plasma cells. Thus, interphase fluorescence in situ hybridization (FISH), performed on sorted plasma cells detected abnormalities independently of a proliferative and infiltrative index.

Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population.

In this study, we investigated the association of mtDNA variants and haplogroups with Type 2 diabetes (T2D) in Moroccan patients. The Hypervariable Segments 1 of the mtDNA was sequenced in 108 diabetic patients and 97 controls. Association analyses were performed using Fisher's exact test and multivariate logistic regression.

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.

The Mediterranean basin has been the theater of migration crossroads followed by settlement of several societies and cultures in prehistoric and historical times, with important consequences on genetic and genomic determinisms. Here, we present the Mediterranean Founder Mutation Database (MFMD), established to offer web-based access to founder mutation information in the Mediterranean population. Mutation data were collected from the literature and other online resources and systematically reviewed and assembled into this database.

Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.

Background: In this case-control study we investigated the relative contribution of commons APOA5 polymorphisms and haplotypes to the risk of metabolic syndrome in Moroccan patients.

Methods: Using the International Diabetes Federation (IDF) criteria for metabolic syndrome, the study included 176 patients and 105 controls. We genotyped APOA5 polymorphisms (-1131 T > C, c.

Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian population: population-based study and meta-analysis.

Aims: Genetic association studies have reported the E23K variant of KCNJ11 gene to be associated with Type 2 diabetes. In Arab populations, only four studies have investigated the role of this variant. We aimed to replicate and validate the association between the E23K variant and Type 2 diabetes in Tunisian and Arab populations.

TNF A -308G>A polymorphism in Moroccan patients with type 2 diabetes mellitus: a case-control study and meta-analysis.

Type 2 diabetes mellitus (T2DM) is one of causes of mortality and morbidity in Moroccan population. The identification of genes implicated in this disease can help to found a specific treatment and to improve the quality of life for type 2 diabetic patients. In this study we analyze the association between a polymorphism (-308G>A) of TNF A promoter gene and T2DM in Moroccan patients.

Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis.

Associations with type 2 diabetes mellitus have been identified for variants CDKAL1 rs7756992, KCNJ11 rs5219, and IGF2BP2 rs4402960 in different populations. In a case-control study of 250 unrelated Moroccan diabetic patients and 250 healthy controls, we used TaqMan allelic discrimination assays to genotype the three SNPs and meta-analysis to investigate the association between the polymorphisms and diabetes in Arab populations. The results showed a significant diabetes association only with the variant rs4402960 of the IGF2BP2 gene under additive 2 (GG vs.

Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients.

Background: The goal of the study is to investigate the association between the APOA5 polymorphisms and haplotypes with Arterial Hypertension (AHT) in Moroccan patients.

Methods: The study was performed in 283 subjects, 149 patients with AHT and 134 controls. All subjects were genotyped for the APOA5 -1131 T > C (rs662799), 56C > G (rs3135506) and c.

Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population.

Background: The insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) and the cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) identified through genome-wide association (GWA) studies have been shown to be associated with Type 2 diabetes in various ethnic groups. In this study, we investigated the association of the rs7756992 of CDKAL1 and the rs4402960 of IGF2BP2 with Type 2 diabetes, diabetic complications (nephropathy, retinopathy and cardiovascular disease), obesity and hypertension in a Tunisian population.

Methods: A case-control association study including 200 Type 2 diabetes Tunisian patients (World Health Organization criteria) and 208 controls (age ≥40; fasting plasma glucose <6.

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

Background: Hearing loss is the most prevalent human genetic sensorineural defect. Mutations in the CLDN14 gene, encoding the tight junction claudin 14 protein expressed in the inner ear, have been shown to cause non-syndromic recessive hearing loss DFNB29.

Aim: We describe a Moroccan SF7 family with non-syndromic hearing loss.

Clinicopathological features and molecular analysis of primary glioblastomas in Moroccan patients.

Glioblastoma is the most frequent and most aggressive primary brain tumor. Primary and secondary glioblastomas develop through different genetic pathways. The aim of this study was to determinate the genetic and clinical features of primary glioblastoma in Moroccan patients.

Association of the MTHFR A1298C variant with unexplained severe male infertility.

The methylenetetrahydrofolate reductase (MTHFR) gene is one of the main regulatory enzymes involved in folate metabolism, DNA synthesis and remethylation reactions. The influence of MTHFR variants on male infertility is not completely understood. The objective of this study was to analyze the distribution of the MTHFR C677T and A1298C variants using PCR-Restriction Fragment Length Polymorphism (RFLP) in a case group consisting of 344 men with unexplained reduced sperm counts compared to 617 ancestry-matched fertile or normozoospermic controls.

Association of the C677T polymorphism in the human methylenetetrahydrofolate reductase (MTHFR) gene with the genetic predisposition for type 2 diabetes mellitus in a Moroccan population.

Aims: Type 2 diabetes mellitus (T2DM) is a major public health problem around the world. The C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene have been reported to be associated with T2DM and its complications. This study aimed to investigate this association in the Moroccan population.

Maternal effect and familial aggregation in a type 2 diabetic Moroccan population.

The aim of this study is to evaluate the degree of familial aggregation of type 2 diabetes mellitus in Morocco and to investigate transmission patterns of the disease and their relationships with patients' clinical profiles. Family history of diabetes and clinical data were collected from 232 unrelated type 2 diabetic Moroccan patients. Diabetes status was recorded for first degree (parents, siblings) and second degree relatives (aunts and uncles from both maternal and paternal sides).

Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss.

Unlabelled: Mutations in mitochondrial DNA (mtDNA), especially the A1555G transition in the 12S rRNA gene, are one of the causes of both aminoglycoside-induced and non-syndromic sensorineural hearing loss.

Objective: The aim of this study was to determine the prevalence of the A1555G mitochondrial mutation in Moroccan patients.

Methods: We performed molecular characterization by PCR-RFLP and direct sequencing of one hundred and sixty four patients (84 unrelated familial and 80 sporadic cases) with a congenital sensorineural non-syndromic hearing loss and one hundred normal hearing controls for the occurrence of the A1555G mutation.