Moroccan Family Research Articles

Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.

Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 α-sarcoglycan-related is a subtype of the autosomal recessive sarcoglycanopathies caused by variants in the alpha-sarcoglycan gene (SGCA) at 17q21.33. It appears in childhood by progressive weakness of pelvic and/or scapular girdle muscles and calf hypertrophy, with a wide range of clinical inter- and intra-familial clinical variability. Our report extends the molecular spectrum of SGCA gene with the identification of variant disease causing and will help for better management of patients and genetic counseling of families. In our study, seven unrelated families presented a clinical and paraclinical picture consistent with alpha-sarcoglycanopathy. A molecular study using Next-Generation Sequencing (NGS) was carried out on them. Six different homozygous variants of the SGCA gene were identified in the patients analyzed, including four previously reported variants and two novel variants predicted to be deleterious by the prediction tools. Our results expand the spectrum of variants in Moroccan patients with sarcoglycanopathy, specifically LGMDR3, most importantly as this form is not common in the Moroccan population.

Resilient moroccan family businesses in times of crisis: the case of the Covid-19 pandemic – what are the reactions, developments, tools, and strategies to face crises?

Resilient moroccan family businesses in times of crisis: the case of the Covid-19 pandemic – what are the reactions, developments, tools, and strategies to face crises?

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.

Syndromic hearing loss (SHL) is characterized by hearing impairment accompanied by other clinical manifestations, reaching over 400 syndromes. Early and accurate diagnosis is essential to understand the progression of hearing loss and associated systemic complications. In this study, we investigated the genetic etiology of sensorineural hearing loss in three Moroccan patients using whole exome sequencing (WES). The results revealed in two families Perrault syndrome caused by LARS2, p. Asn153His; p. Thr629Met compound heterozygous variants in two siblings in one family; and p. Thr522Asn, a homozygous variant in two sisters in another. The patient in the third family was diagnosed with D-bifunctional protein deficiency (D-BPD), linked to compound heterozygous mutations p. Asn457Tyr and p. Val643Argfs*5 in HSD17B4. Molecular dynamic simulation results showed that Val643Argfs*5 does not prevent HSD17B4 protein from binding to the PEX5 receptor, but further studies are recommended to verify its effect on HSD17B4 protein functionality. These results highlight the effectiveness of WES in identifying pathogenic mutations involved in heterogeneous disorders and the usefulness of bioinformatics in predicting their effects on protein structure.

Exploring Cultural Conservatism in Moroccan Family Businesses: Implications for Strategic Behaviors and Organizational Dynamics

This paper explores the cultural conservatism of family businesses in Morocco and its implications for strategic and organizational behaviours. Drawing on the Gioia methodology, qualitative data were collected from twelve Moroccan family businesses representing diverse industries, sizes, generations, and locations. The findings reveal that cultural conservatism in Moroccan family businesses is characterized by a collective culture that promotes solidarity, internal coordination, and blurred boundaries between family and work. A culture of conformity is prevalent, leading to increased stability of relationships and a shared vision and values within family businesses. In addition, the culture of conservation emphasizes the protection of identity, preservation of tradition, and continuity of family control. These cultural characteristics shape the strategic decisions and behaviors of family businesses, contributing to their unique competitive advantage. This paper highlights the importance of balancing tradition with adaptation in achieving sustainable performance in family businesses. The findings offer valuable insights for practitioners and scholars interested in understanding the impact of cultural conservatism on family businesses in the Moroccan context. Further research is recommended to validate the findings quantitatively and explore the role of other stakeholders in family businesses.

Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.

Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families presenting with WFS. Methods: The clinical features of five members of two WFS families were evaluated. Whole-exome sequencing was conducted to explore the underlying genetic cause in the affected patients. Results: Two homozygous variants in the WFS1 gene were identified, each in one of the two families studied: a missense c.1329C>G variant (p.Ser443Arg) and a nonsense mutation c.1113G>A (p.Trp371Ter). These variants affected conserved amino acid residues, segregated well in the two families, and are absent from genetic databases and in controls of Moroccan origin. Bioinformatics analysis classified the two variants as pathogenic by in silico tools and molecular modeling. Conclusion: Our study identified for the first time two variants in Moroccan patients with WFS that extends the mutational spectrum associated with the disease.

Analysis of tax compliance behavior of family businesses: combining social and psychology norms and legitimacy determinants

PurposeThis study aims to analyze the tax compliance behavior of family firms by integrating social and psychological norms with legitimacy determinants, focusing specifically on the Moroccan context.Design/methodology/approachEmploying a qualitative research design, the study conducted semi-structured interviews with 30 chief executive officers (CEOs) of Moroccan family firms. The data were analyzed using thematic analysis to unravel the interplay between individual beliefs and societal norms.FindingsThe findings reveal a complex interplay between the personal norms of CEOs and chief financial officers (CFOs) and wider societal and cultural expectations, significantly influencing tax compliance behavior. The study identifies the multifaceted nature of tax compliance, which is shaped by personal ethics, family values and the dominant societal tax culture.Research limitations/implicationsThe research is limited by its qualitative approach and focus on Moroccan family businesses, which may not be generalizable to other contexts. Future studies could use a quantitative approach and expand to other geographical settings for a more comprehensive understanding.Practical implicationsInsights from the study can assist policymakers and tax authorities in developing culturally sensitive tax compliance strategies that resonate with family business values.Social implicationsThe research underscores the importance of considering sociocultural dimensions in tax compliance, fostering a more cooperative relationship between family businesses and tax authorities.Originality/valueThe study contributes a novel perspective by synthesizing social, psychological and legitimacy factors in understanding tax compliance in the unique context of family businesses.

Exploring the Impact of Socioemotional Wealth on Moroccan Family Firms’ Global Expansion

This study delves into the pivotal role of socioemotional wealth (SEW) in shaping the global expansion strategies of Moroccan family businesses. By employing a quantitative approach, we scrutinize the intricate dynamics between SEW and internationalization decisions, focusing on control preferences during global ventures. Our investigation encompasses a comparative case study analysis of 51 Moroccan family enterprises, enriched by insights from semi-structured interviews and organizational data. Preliminary findings underscore the necessity of integrating SEW considerations in strategic planning for successful internationalization, highlighting a nuanced understanding of control mechanisms in family firms’ cross-border operations. This research contributes to the broader discourse on family business internationalization, offering a novel perspective on the interplay between emotional wealth and global market engagement.

How to ensure the recovery of family businesses in a crisis situation? Case of the Moroccan family business Maghreb Steel

Learning outcomes After completion of the case study, students will be able to examine the financial implications of Maghreb Steel’s substantial investment in the Blad Assolb complex in 2007 within the restructuring plan; explore how this decision influenced the company’s financial health and strategic position in the steel market, within the context of the restructuring plan; assess the impact of the 2008 economic crisis within the restructuring plan; analyze how the crisis affected the company’s pricing strategies, profitability and overall business strategy; investigate the financial and strategic consequences of the hot rolling activity initiated as a result of the Blad Assolb project within the company’s restructuring plan; and critique how this venture impacted the company’s operations, cost structure and competitiveness in the steel industry, aligned with the restructuring plan. Case overview/synopsis This case study deals with the only flat steel producer in Morocco: Maghreb Steel, the Moroccan family-owned company created in 1975 by the Sekkat family. It was a leading steel company. At the beginning, the company was specialized in the field of steel tubes, but thanks to its growth ambitions, the Sekkat family had made Maghreb Steel a major player in the Moroccan steel sector. In the same logic of development, the top management of Maghreb Steel launched in 2007 in the adventure to create the first production complex of cold rolling in Morocco – an investment that pushed Maghreb Steel to resort to a debt of more than 6bn dirhams (DH) with a consortium of six banks and would have allowed the company a huge leap in growth, except that the decision-makers of the group Sekkat could not see coming the economic crisis of 2008 causing the fall of steel prices by 62% compared to 2007. Thus, from its effective launch in 2010, the activity of hot rolling would become, for the company, a regrettable orientation. Moreover, the national market could not absorb all the production of the complex that the company called Blad Assolb. In response to this difficult situation, Maghreb Steel decided to store its goods to avoid selling at a loss. Faced with this situation of sectoral crisis and deterioration of its activity, Maghreb Steel lost its ability to honor its financial commitments with the banking consortium. From then on, the company became a case of failure, and the recovery measures had not ceased to be duplicated by the various stakeholders: State, Sekkat family, creditors and management of the company, having only one objective in mind: Save Maghreb Steel! This said, the present case study is dedicated to the financial and strategic analysis of the current situation and the evolution of the company throughout the crisis period to finally propose a suitable recovery plan to save Maghreb Steel. Complexity academic level The case study can be taught to students of master’s degrees in financial management as a synthesis of finance courses. It can also be used to train executives and managers working in family businesses as part of professional certification training. Supplementary materials Teaching notes are available for educators only. Subject code CSS 1: Accounting and finance.

Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population

Introduction: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal recessive nonsyndromic hearing loss (NSHL) worldwide. However, the mutation profile of GJB2 in NSHL is under-investigated in Morocco, especially among simplex cases. This study aimed to identify the spectrum and frequency of GJB2 mutations in the Moroccan population among simplex and multiplex families with NSHL. Methods: Moroccan families with NSHL were selected according to well-defined criteria. Selected families were screened for GJB2 gene variants using direct sequencing of the entire coding region of GJB2. Results: A total of 145 affected individuals from 115 families with NSHL were included in this study (49 simplex, 66 multiplex). Mutations in the GJB2 gene were noted in 28.69% of the families (33/115), of which 75.75% were multiplex families and 24.24% were simplex. In total, seven different mutations were detected: c.35delG(p.G12fs), c.551G>A(p.R184Q), c.139G>T(p.E47X), c.109G>A(p.V37I), c.167delT(p.L56fs), c.617A>G(p.N206S), c.94C>T(p.R32C). The last three mutations have not previously been reported in Morocco. The most common GJB2 mutation was c.35delG (21.73%), followed by p.V37I (2.60%) and p.E47X (1.73%). Conclusions: Our study confirms a high prevalence of GJB2 variants in the Moroccan population, particularly the c.35delG mutation. Additionally, we have identified previously unreported or rarely reported mutations, revealing a greater diversity of GJB2 mutations. These findings emphasize the importance of comprehensive screening beyond the 35delG mutation for patients with NSHL, regardless of their family history. Integrating this approach into clinical care will enhance diagnosis and management of hearing loss in the Moroccan population.

Strategies for social mobility through sports and/or school in working-class Moroccan families

ABSTRACT This article examines the social mobility strategies employed by working-class Moroccan families in the context of the complex relationship of elite sport and school. To better understand these strategies, a qualitative study, including semi-structured interviews and participant observations, was conducted in the city of Temara (on the outskirts of Rabat) with young people aged 14–20 years and parents. From the analysis of this data, I identified five themes that reflect the different investments families held in sport and/or schooling, as strategies for their children’s futures. One group of parents invested in an educational strategy that focused on academic success. In contrast, others adapted their strategies to encourage their children to pursue an athletic career if they failed academically or showed signs of potential athletic success, while another group of parents tried to protect their children from the possible adverse effects of sports commitment. Another group supported their children in their chosen paths of social mobility. Lastly, there were parents who due to precarious living conditions and family conflicts were indifferent to sports as a pathway to social mobility and instead urged their children to become more productive immediately through seeking work. These differing family strategies in relation to young people's investment in sports point to the diversity of working-class families’ responses to the tensions that emerge when school and sport come into conflict as pathways to social mobility. I acknowledge that these family strategies are not fixed but may change with changes in available resources and opportunities. However, I argue that both schools and sporting organizations need to be aware and understand the complex environments, including family investments and strategies in which students may be making choices about their futures in relation to education and sport.

First description of episodic kinesigenic dyskinesia 1 with epilepsy in a large Moroccan family with the PRRT2 ARG217PROFS8 mutation

First description of episodic kinesigenic dyskinesia 1 with epilepsy in a large Moroccan family with the PRRT2 ARG217PROFS8 mutation

Divorcing abroad, sharīʿah style: Legal reforms and Moroccan women

Abstract Against the backdrop of the fast-progressing legal reconfigurations happening in European countries and the Muslim world, this article brings to light two internationally noteworthy yet overlooked scenarios. The first regards the plasticity of the Italian provisions fostering the privatization of family matters via extra-judicial matrimonial dissolution formulae, which potentially accommodate Islamically inspired normativities either by granting legal validity to ex-spouses’ sharīʿah-compliant agreements, or by incorporating potential concessions for the Islamic legal waiting period. The second scenario concerns access to justice for Muslim Moroccan wives, who may strategically seek divorce before Italian tribunals through the implementation of Moroccan family law to benefit from more advantageous interpretations and judicial discretion. In-depth examinations of unpublished legal proceedings reveal an evolving legal vocabulary while documenting strengthened confidence in applying the Mudawwanah on European soil. While this can impede the validation of European (extra-)judicial divorces in Muslim-majority countries and lead to divergent implementations of the same norms in Italy and Morocco, the dynamics nonetheless foster forum shopping and women’s empowerment. Paying careful attention to the "gendered readings" of legal provisions introduced by disputing partners before the judiciary, the narrative depicting victimized Muslim women in migratory contexts is therefore challenged.

Novel pathogenic WHRN variant causing hearing loss in a moroccan family.

The most prevalent sensory disease in humans is deafness. A variety of genes have been linked to hearing loss, which can either be isolated (non-syndromic) or associated with lesions in other organs (syndromic). It has been discovered that WHRN variants are responsible for non-syndromic hearing loss and Usher syndrome type II. Exome sequencing in a consanguineous Moroccan patient with severe hearing loss identified a single homozygous mutation c.619G > T; p.Ala207Ser in WHRN, encoding a cytoskeletal scaffold protein that binds membrane protein complexes to the cytoskeleton in ocular photoreceptors and ear hair cell stereocilia. Bioinformatics methods and molecular dynamic modeling were able to predict the pathogenic implications of this variation. We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.

Novel variant in Moroccan patient with hereditary spastic paraplegia type 35

Hereditary Spastic Paraplegia Type 35 (HSP35) is a complex form of Hereditary Spastic Paraplegia. The main features of HSP35 include progressive paraparesis, dysarthria, and mild cognitive decline, along with the presence of leukodystrphy on brain imaging. HSP35 is caused by pathogenic variants in the fatty acid 2-hydroxylase protein (FA2H).In this study, whole exome sequencing (WES) was performed on a Moroccan family displaying HSP features. The genetic analysis revealed the novel variant (p.Thr352Pro) in the FA2H in the HSP in the family affected by HSP35. Computational analysis demonstrated a reduction in protein stability and alterations in amino acid interactions in the FA2H protein associated with p.Thr352Pro variant. Our study provides more insight about HSP35 associated variants, which can be valuable for counseling patients with HSP. Additionally molecular biology studies are required to investigate the genotype-phenotype correlation of FA2H- associated HSPs.

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.

One of the most prevalent sensorineural disorders, autosomal recessive non-syndromic hearing loss (ARNSHL) which can affect all age groups, from the newborn (congenital) to the elderly (presbycusis). Important etiologic, phenotypic, and genotypic factors can cause deafness. So far, the high genetic variability that explains deafness makes molecular diagnosis challenging. In Morocco, the GJB2 gene is the primary cause of non-syndromic hereditary deafness, while the existence of a variant in the LRTOMT gene is the second cause of this condition. After excluding these two frequently occurring GJB2 and LRTOMT variants, whole-exome sequencing was carried out in two Moroccan consanguineous families with hearing loss. As a result, two novel variants in the TMPRSS3 (c.1078G>A, p. Ala 360Thr) and FOXI1 (c.6C>G, p. Ser 2Arg) genes have been discovered in deaf patients and the pathogenic effect has been anticipated by several bioinformatics and molecular modeling systems. For the first time, these variants are identified in the Moroccan population, showing the population heterogeneity and demonstrating the value of the WES in hearing loss diagnosis.

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

Acromesomelic dysplasia Grebe type (AMD Grebe type) is an autosomal recessive trait characterized by short stature, shortened limbs and malformations of the hands and feet. It is caused by variants in the growth differentiation factor 5 (GDF5) or, in rare cases, its receptor, the bone morphogenetic protein receptor-1B (BMPR1B). Here, we report a novel homozygous BMPR1B variant causing AMD Grebe type in a consanguineous Moroccan family with two affected sibs from BRO Biobank. Remarkably, the affected individuals showed additional features including bilateral simian creases, lumbar hyperlordosis, as well as lower limb length inequality and dislocated hips in one of them, which were never reported previously for AMD Grebe type patients. The identified novel BMPR1B variant (c.1201C>T, p.R401*) is predicted to result in loss of function of the BMPR1B protein either by nonsense-mediated mRNA decay or production of a truncated BMPR1B protein. Thus, these findings expand the phenotypic and mutational spectrum of AMD, and may improve the diagnosis of AMD and enable appropriate genetic counselling to be offered to patients.

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

BackgroundWolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due to severe neurological complications. Two causative genes have been identifed in this syndrome; the classical form is caused by autosomal recessive mutations of the WFS1 gene, and a smaller portion of patients has mutations in the CIDS2 gene, which are responsible for autosomal recessive Wolfram syndrome 2.Case presentationWe report the case of a 28-year-old Moroccan boy born from consanguineous parents referred to the department of medical genetics at the National Institute of Health in Rabat. The diagnosis of Wolfram syndrome was made based on insulin-dependent diabetes, optic nerve atrophy, sensorineural deafness, urological abnormalities and psychiatric illness. To establish the diagnosis at a molecular level, we performed next-generation sequencing in the index patient, which revealed compound heterozygous WFS1 mutations: c.1113G > A (p.Trp371Ter) and c.1223_1224insGGAACCACCTGGAGCCCTATGCCCATTT (p.Phe408fs). This second variant has never been described in patients with Wolfram syndrome.ConclusionThe identification of the genetic substrate in our patient confirmed the clinical diagnosis of Wolfram syndrome and allowed us to provide him an appropriate management and genetic counseling to his family.

Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.

Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in the HSPG2 gene encoding the protein perlecan, a major component of basement membranes. We report a novel splice mutation HSPG2(NM_005529.7):c.3888 + 1G > A and a known point mutation HSPG2(NM_005529.7):c.8464G > A, leading to the skipping of exon 31 and 64 in mRNA, respectively, in a Moroccan child with clinical features suggestive of SJS1 and carrying two compound heterozygous mutations in the HSPG2 gene detected by next-generation sequencing. Both parents harboured one mutation. Real-time and immunostaining analysis revealed down-regulation of the HSPG2 gene and a mild reduction in the protein in the muscle, respectively. We reviewed all genetically characterized SJS1 cases reported in literature, confirming the clinical hallmarks and unspecific instrumental data in our case. The genotype-phenotype correlation is very challenging in SJS1. Therapy is mainly focused on symptom management and several drugs have been administered with different efficacy.Here, we report the second case with spontaneous improvement.

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.

This report describes a patient with a novel homozygous nonsense variant, nail dysplasia and diabetes. Only a few patients have been described with FZD6 mutations and nail dysplasia, and the spectrum of associated manifestations has not been identified. Indeed, it is questionable whether there is a link between pancreatic involvement and the genetic abnormality identified.

Queer Cinema’s Practicing Muslims and Practicing Homosexuals

Bilal Qureshi returns to the pages of Film Quarterly to examine the unexpected success on the festival circuit and beyond of Joyland (Saim Sadiq, 2022), from Pakistan, and Le bleu du caftan (The Blue Caftan, Maryam Touzani, 2022), from Morocco. Both films are singular, unusual stories of success from underrepresented film cultures, prompting Qureshi to inquire whether they represent a queer breakthrough for Pakistani or Moroccan filmmaking. Elegant, lush, and romantic, each an impeccably made window into middle-class Pakistani and Moroccan family life and unspoken queer desire, Joyland and The Blue Caftan open up exciting conversations about the future of queer cinema and, perhaps even more importantly, about Muslim cinema.