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  1. Article ; Online: Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus–dystonia

    Faiza Chbel / Hicham Charroute / Redouane Boulouiz / Hasna Hamdaoui / Houssein Mossafa / Houda Benrahma / Karim Ouldim

    Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)

    2022  

    Abstract: Abstract 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 ... ...

    Abstract Abstract 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.662G> T inherited in the M‐D Moroccan family described for the first time, which is deleterious based on protein modeling analysis.
    Keywords c.662G>T mutation ; familial myoclonus–dystonia ; modeling ; Morocco ; SGCE gene ; Medicine ; R ; Medicine (General) ; R5-920
    Language English
    Publishing date 2022-03-01T00:00:00Z
    Publisher Wiley
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: A laboratory-based study of COVID-19 in Casablanca, Morocco

    Idrissa Diawara / Houda Benrahma / Nida Meskaouni / Jalila Rahoui / Fatima-Zahra Moujid / Khadija Jaras / Rachid Benmessaoud / Khadija Arouro / Zahra Aadam / Salma Nahir / Zineb Aouzal / Hajar Elguazzar / Leila Jeddan / Hind Rida / Fadoua Ousti / Jalila El Bakkouri / Imane Smyej / Chakib Nejjari

    Journal of Public Health in Africa (2020)

    2020  

    Abstract: Background: Given the spread of coronavirus disease 2019 (COVID-19) and its impact on human health, laboratory confirmation of diagnosis is essential. Objective: This study examined the contribution of laboratory diagnosis to the detection of severe ... ...

    Abstract Background: Given the spread of coronavirus disease 2019 (COVID-19) and its impact on human health, laboratory confirmation of diagnosis is essential. Objective: 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. Methods: 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 one-step reverse transcription real-time polymerase chain reaction (RT-PCR) was used to detect the presence of the SARS-CoV-2 genome. A national epidemiological investigation form was used to analyze patient exposure risk, clinical symptoms and comorbidities. Results: A total of 793 samples from 375 patients were analyzed and 1150 RT-PCR tests were conducted; 116 patients (30.93%) were COVID-19 positive. Travel to a risk zone, contact with a confirmed COVID-19 case and contact with a person who had been in a risk zone were significantly associated with being positive for COVID-19. Fever and cough were the main symptoms; 7.76 % of positive patients were asymptomatic. Conclusion: This is the first laboratory-based study in Morocco for the diagnosis of COVID- 19. Laboratory diagnosis of COVID-19 by RT-PCR associated with knowledge of exposure risk factors and clinical symptoms and comorbidities remains essential for clinicians for early, appropriate medical management COVID-19 patients.
    Keywords COVID-19 ; SARS-CoV-2 ; Risk factors ; Laboratory test ; RT-PCR ; Public aspects of medicine ; RA1-1270 ; covid19
    Subject code 610
    Language English
    Publishing date 2020-10-01T00:00:00Z
    Publisher PAGEPress Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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

    Meriem Laamarti / Tarek Alouane / Souad Kartti / M.W. Chemao-Elfihri / Mohammed Hakmi / Abdelomunim Essabbar / Mohamed Laamart / Haitam Hlali / Loubna Allam / Naima EL Hafidi / Rachid EL Jaoudi / Imane Allali / Nabila Marchoudi / Jamal Fekkak / Houda Benrahma / Chakib Nejjari / Saaid Amzazi / Lahcen Belyamani / Azeddine Ibrahimi

    Abstract: AbstractIn 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 their spread across countries. ...

    Abstract AbstractIn 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 their spread across countries. In this study, we collected and analyzed 3,067 SARS-CoV-2 genomes isolated from 59 countries during the first three months after the onset of this virus. Using comparative genomics analysis, we traced the profiles of the whole-genome mutations and compared the frequency of each mutation in the studied population. The accumulation of mutations during the epidemic period with their geographic locations was also monitored. The results showed 716 site mutations, of which 457 (64%) had a non-synonymous effect. Frequencies of mutated alleles revealed the presence of 39 recurrent non-synonymous mutations, including 10 hotspot mutations with a prevalence higher than 0.10 in this population and distributed in six genes of SARS-CoV-2. The distribution of these recurrent mutations on the world map revealed certain genotypes specific to the geographic location. We also found co-occurring mutations resulting in the presence of several haplotypes. Thus, evolution over time has shown a mechanism of co-accumulation and the phylogenetic analysis of this population indicated that this virus can be divided into 3 clades, including a subgroup-specific to the genomes of the United States. On the other hand, analysis of the selective pressure revealed the presence of several negatively selected residues that could be useful for considerations as therapeutic target design.We have also created an inclusive unified database (http://moroccangenomes.ma/covid/) that lists all of the genetic variants of the SARS-CoV-2 genomes found in this study with phylogeographic analysis around the world.
    Keywords covid19
    Publisher biorxiv
    Document type Article ; Online
    DOI 10.1101/2020.05.03.074567
    Database COVID19

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

    Meriem Laamarti / Tarek Alouane / Souad Kartti / M W Chemao-Elfihri / Mohammed Hakmi / Abdelomunim Essabbar / Mohamed Laamarti / Haitam Hlali / Houda Bendani / Nassma Boumajdi / Oussama Benhrif / Loubna Allam / Naima El Hafidi / Rachid El Jaoudi / Imane Allali / Nabila Marchoudi / Jamal Fekkak / Houda Benrahma / Chakib Nejjari /
    Saaid Amzazi / Lahcen Belyamani / Azeddine Ibrahimi

    PLoS ONE, Vol 15, Iss 11, p e

    2020  Volume 0240345

    Abstract: 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 ... ...

    Abstract 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. Using comparative genomics analysis, we traced the profiles of the whole-genome mutations and compared the frequency of each mutation in the studied population. The accumulation of mutations during the epidemic period with their geographic locations was also monitored. The results showed 782 variants sites, of which 512 (65.47%) had a non-synonymous effect. Frequencies of mutated alleles revealed the presence of 68 recurrent mutations, including ten hotspot non-synonymous mutations with a prevalence higher than 0.10 in this population and distributed in six SARS-CoV-2 genes. The distribution of these recurrent mutations on the world map revealed that certain genotypes are specific to geographic locations. We also identified co-occurring mutations resulting in the presence of several haplotypes. Moreover, evolution over time has shown a mechanism of mutation co-accumulation which might affect the severity and spread of the SARS-CoV-2. The phylogentic analysis identified two major Clades C1 and C2 harboring mutations L3606F and G614D, respectively and both emerging for the first time in China. On the other hand, analysis of the selective pressure revealed the presence of negatively selected residues that could be taken into considerations as therapeutic targets. We have also created an inclusive unified database (http://covid-19.medbiotech.ma) that lists all of the genetic variants of the SARS-CoV-2 genomes found in this study with phylogeographic analysis around the world.
    Keywords Medicine ; R ; Science ; Q
    Subject code 572
    Language English
    Publishing date 2020-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Genomic Diversity and Hotspot Mutations in 30,983 SARS-CoV-2 Genomes

    Tarek Alouane / Meriem Laamarti / Abdelomunim Essabbar / Mohammed Hakmi / El Mehdi Bouricha / M. W. Chemao-Elfihri / Souad Kartti / Nasma Boumajdi / Houda Bendani / Rokia Laamarti / Fatima Ghrifi / Loubna Allam / Tarik Aanniz / Mouna Ouadghiri / Naima El Hafidi / Rachid El Jaoudi / Houda Benrahma / Jalil El Attar / Rachid Mentag /
    Laila Sbabou / Chakib Nejjari / Saaid Amzazi / Lahcen Belyamani / Azeddine Ibrahimi

    Pathogens, Vol 9, Iss 829, p

    Moving Toward a Universal Vaccine for the “Confined Virus”?

    2020  Volume 829

    Abstract: The COVID-19 pandemic has been ongoing since its onset in late November 2019 in Wuhan, China. Understanding and monitoring the genetic evolution of the virus, its geographical characteristics, and its stability are particularly important for controlling ... ...

    Abstract The COVID-19 pandemic has been ongoing since its onset in late November 2019 in Wuhan, China. Understanding and monitoring the genetic evolution of the virus, its geographical characteristics, and its stability are particularly important for controlling the spread of the disease and especially for the development of a universal vaccine covering all circulating strains. From this perspective, we analyzed 30,983 complete SARS-CoV-2 genomes from 79 countries located in the six continents and collected from 24 December 2019, to 13 May 2020, according to the GISAID database. Our analysis revealed the presence of 3206 variant sites, with a uniform distribution of mutation types in different geographic areas. Remarkably, a low frequency of recurrent mutations has been observed; only 169 mutations (5.27%) had a prevalence greater than 1% of genomes. Nevertheless, fourteen non-synonymous hotspot mutations (>10%) have been identified at different locations along the viral genome; eight in ORF1ab polyprotein (in nsp2, nsp3, transmembrane domain, RdRp, helicase, exonuclease, and endoribonuclease), three in nucleocapsid protein, and one in each of three proteins: Spike, ORF3a, and ORF8. Moreover, 36 non-synonymous mutations were identified in the receptor-binding domain (RBD) of the spike protein with a low prevalence (<1%) across all genomes, of which only four could potentially enhance the binding of the SARS-CoV-2 spike protein to the human ACE2 receptor. These results along with intra-genomic divergence of SARS-CoV-2 could indicate that unlike the influenza virus or HIV viruses, SARS-CoV-2 has a low mutation rate which makes the development of an effective global vaccine very likely.
    Keywords COVID-19 ; SARS-CoV-2 ; genomic diversity ; divergence ; hotspot mutations ; spike protein ; Medicine ; R ; covid19
    Subject code 570
    Language English
    Publishing date 2020-10-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Evidence for Association of the E23K Variant of KCNJ11 Gene with Type 2 Diabetes in Tunisian Population

    Khaled Lasram / Nizar Ben Halim / Sana Hsouna / Rym Kefi / Imen Arfa / Welid Ghazouani / Henda Jamoussi / Houda Benrahma / Najla Kharrat / Ahmed Rebai / Slim Ben Ammar / Sonia Bahri / Abdelhamid Barakat / Abdelmajid Abid / Sonia Abdelhak

    BioMed Research International, Vol

    Population-Based Study and Meta-Analysis

    2014  Volume 2014

    Abstract: 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 ... ...

    Abstract 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. Methods. We have performed a case-control association study including 250 Tunisian patients with Type 2 diabetes and 267 controls. Allelic association has also been evaluated by 2 meta-analyses including all population-based studies among Tunisians and Arabs (2 and 5 populations, resp.). Results. A significant association between the E23K variant and Type 2 diabetes was found (OR = 1.6, 95% CI = 1.14–2.27, and P=0.007). Furthermore, our meta-analysis has confirmed the significant role of the E23K variant in susceptibility of Type 2 diabetes in Tunisian and Arab populations (OR = 1.29, 95% CI = 1.15–1.46, and P<10-3 and OR = 1.33, 95% CI = 1.13–1.56, and P=0.001, resp.). Conclusion. Both case-control and meta-analyses results revealed the significant association between the E23K variant of KCNJ11 and Type 2 diabetes among Tunisians and Arabs.
    Keywords Medicine ; R
    Language English
    Publishing date 2014-01-01T00:00:00Z
    Publisher Hindawi Limited
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss

    Majida Charif / Redouane Boulouiz / Amina Bakhechane / Houda Benrahma / Halima Nahili / Abdelmajid Eloualid / Hassan Rouba / Mostafa Kandil / Omar Abidi / Guy Lenaers / Abdelhamid Barakat

    Indian Journal of Human Genetics, Vol 19, Iss 3, Pp 331-

    2013  Volume 336

    Abstract: 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 ... ...

    Abstract 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. We performed linkage analysis in this family and sequencing to identify the mutation causing deafness. Materials and Methods: Genetic linkage analysis, suggested the involvement of CLDN14 and KCNE1 gene in deafness in this family. Mutation screening was performed using direct sequencing of the CLDN14 and KCNE1 coding exon gene. Results: Our results show the presence of c.11C>T mutation in the CLDN14 gene. Transmission analysis of this mutation in the family showed that the three affected individuals are homozygous, whereas parents and three healthy individuals are heterozygous. This mutation induces a substitution of threonine to methionine at position 4. Conclusion: These data show that CLDN14 gene can be i mplicated in the development of hearing loss in SF7 family; however, the pathogenicity of c.11C>T mutation remains to be determined.
    Keywords CLDN14 gene ; hearing loss ; Moroccan family ; mutation ; Genetics ; QH426-470 ; Biology (General) ; QH301-705.5 ; Science ; Q
    Subject code 572
    Language English
    Publishing date 2013-01-01T00:00:00Z
    Publisher Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Association of the MTHFR A1298C variant with unexplained severe male infertility.

    Abdelmajid Eloualid / Omar Abidi / Majida Charif / Brahim El Houate / Houda Benrahma / Noureddine Louanjli / Elbakkay Chadli / Maria Ajjemami / Abdelhamid Barakat / Anu Bashamboo / Ken McElreavey / Houria Rhaissi / Hassan Rouba

    PLoS ONE, Vol 7, Iss 3, p e

    2012  Volume 34111

    Abstract: 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 ... ...

    Abstract 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. The Chi square test was used to analyze the genotype distributions of MTHFR polymorphisms. Our data indicated a lack of association of the C677T variant with infertility. However, the homozygous (C/C) A1298C polymorphism of the MTHFR gene was present at a statistically high significance in severe oligozoospermia group compared with controls (OR = 3.372, 95% confidence interval CI = 1.27-8.238; p = 0.01431). The genotype distribution of the A1298C variants showed significant deviation from the expected Hardy-Weinberg equilibrium, suggesting that purifying selection may be acting on the 1298CC genotype. Further studies are necessary to determine the influence of the environment, especially the consumption of diet folate on sperm counts of men with different MTHFR variants.
    Keywords Medicine ; R ; Science ; Q
    Subject code 572
    Language English
    Publishing date 2012-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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