Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies

Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis pigmentosa and Stargardt-like macular dystrophy, in whom we identified a PROM1 mutation. Methods: A custom gene panel consisting of 119 inherited retinal dystrophies (IRD)-genes was applied in the two affected individuals of this family and sequenced using the Illumina´s NextSeq500 platform. Results: The analysis of the resulting data allowed us to identify the pathogenic PROM1 mutation c.1117C>T (p.Arg373Cys) as the primary cause of the disease in both patients. No additional variants contributing to the extent of retinal dysfunction were detected. Conclusion: The variable expressivity of the detected PROM1 mutation is the most likely responsible for the intrafamilial phenotypic variability observed in this family. Screening of this mutation should be considered in patients with compatible clinical manifestations, especially when accompanied by an autosomal dominant family history.

Does COVID-19 Change CSR? A Family Business Perspective

The purpose of this study was to analyze the #Damos La Cara (“Let’s show our face”) initiative, which is an initiative promoted by the Instituto de la Empresa Familiar, the most representative organization of family businesses in Spain. This analysis allowed us to characterize the Spanish family business and to analyze their reactions and interventions in the face of the crisis posed by COVID-19 from the perspective of CSR. The methodology used consisted of a content analysis, viewing 127 videos wherein family members presented their companies and the activities carried out to improve their relations with their employees and their environment. The conclusions reached allowed us to affirm that they were mostly second- and third-generation companies from the manufacturing sector; the most repeated actions were social commitment to their workers (internal) and the donation of medical materials (corporate). To the best of our knowledge, this was the first time that an analysis of these characteristics had been carried out in the field of family businesses. This analysis showed the intense philanthropic activity carried out by Spanish family businesses, not only in emergencies but also as a regular activity and as a consequence of their values and long-term vision.

Online disagreement in WhatsApp groups: A comparative study of Spanish family members and work colleagues

The purpose of this paper is to compare disagreement in two different WhatsApp groups: one for members of the same family, and another for work colleagues. After the analysis, 427 instances of disagreement were identified in the family group, and 161 in the interactions between work colleagues. The most common strategy in both corpora is ‘Giving opposite opinions’. Nevertheless, the rest of the results present very significant dissimilarities, most notably the higher presence of disagreement in the family WhatsApp group. This higher tolerance for disagreement is corroborated by the choice of linguistic strategies made. Whereas the family members tended to give emotional or personal reasons for disagreement, as well as negative comments on the topic, the colleagues preferred to express their disagreement with mitigating expressions and token agreement. Thus, in the corpora studied, the expression of disagreement seems to be less face threatening for family members than for work colleagues.

The paradoxes of love in the Spanish family: a sociological approach

This article defines the Spanish family in the context of the “Mediterranean model” and the “individualization society”. The former is characterised by strong social interrelationships between family members and their emotional ties, while the latter is defined by the separateness of citizens and by institutionalising the basis of society in individuals rather than in the family. The work also describes how modern forms of love, both romantic and confluent, are institutionalized in this society, discussing if they coexist or not, how they exist, and which is the dominant form. Finally, it analyzes the degree of strength or fragility of the family institution and the affective relationships that sustain it. The work concludes that the Spanish family is balancing between the strong resistance to disappear as an institution and its eclipse, crisis, or complete end. This is because, although the Spanish family still retains a large part of its former functions, at the same time as divorce is on the increase and family members are decreasing, it is increasingly ephemeral and a plurality of family forms have emerged that have broken with the traditional dominant model of lifelong romantic marriage. Moreover, the Spanish family is also among the “familist” model and the individual, while the way of loving fluctuates between the traditional patriarchal and the democratic, individual, and communitary. Thus, the thesis I propose qualifies and questions the majority of theoretical works on love and the Spanish family, which argue that the family is inscribed in the “Mediterranean model”. As will be seen, the romantic relationships that have been institutionalised in the Spanish family are more paradoxical, insofar as they are still inscribed in that model, but they are rapidly approaching those of Northern Europe.

Intergenerational Differences in Family Business Management and Their Influence on Business Profitability

The generational change in the family business opens up expectations of strategies such as sustainability, professionalisation and internationalisation. Yet, there are gaps in current literature which fail to explain whether there are benefits in such strategies according to their management, their generational status, and their effects on performance. This paper compared first with second and later generation companies through the relevant characteristics. A regression analysis was applied to a sample that was identified by the Spanish Family Business Institute with information on growth strategy, corporate governance, professionalisation, and ownership, that is supported by financial data for the period of 2016–2020. The results showed that, although the differences in terms of profitability were small between generations, there were significant differences in management that affected performance. Growth tended to be lower in the second and subsequent generations, which also h a greater tendency to internationalise, being motivated by the professionalisation of management. Previous works in the literature have analysed differences in profitability between generations, however the analysis in this present work investigated the origin of these differences. The results showed disparities in management that allowed for the obtaining of different profitability indices, and therefore are of practical importance in the management of the internationalisation, growth, and sustainability of the family business in the face of intergenerational succession.

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism leading to CM-1. However, other mechanisms may also contribute, particularly in the presence of connective tissue disorders (CTDs), such as Ehlers Danlos Syndrome (EDS). Accumulating data suggest CM-1 with connective tissue disorders (CTD+) may have a different patho-mechanism and different genetic risk factors than CM-1 without CTDs (CTD-). To identify CM-1 genetic risk variants, we performed whole exome sequencing on a single large, multiplex family from Spain and targeted sequencing on a cohort of 186 unrelated adult, Caucasian females with CM-1. Targeted sequencing captured the coding regions of 21 CM-1 and EDS candidate genes, including two genes identified in the Spanish family. Using gene burden analysis, we compared the frequency of rare, functional variants detected in CM-1 cases versus publically available ethnically-matched controls from gnomAD. A secondary analysis compared the presence of rare variants in these genes between CTD+ and CTD- CM-1 cases. In the Spanish family, rare variants co-segregated with CM-1 in COL6A5, ADGRB3 and DST. A variant in COL7A1 was present in affected and unaffected family members. In the targeted sequencing analysis, rare variants in six genes (COL7A1, COL5A2, COL6A5, COL1A2, VEGFB, FLT1) were significantly more frequent in CM-1 cases compared to public controls. In total, 47% of CM-1 cases presented with rare variants in at least one of the four significant collagen genes and 10% of cases harbored variants in multiple significant collagen genes. Moreover, 26% of CM-1 cases presented with rare variants in the COL6A5 gene. We also identified two genes (COL7A1, COL3A1) for which the burden of rare variants differed significantly between CTD+ and CTD- CM-1 cases. A higher percentage of CTD+ patients had variants in COL7A1 compared to CTD+ patients, while CTD+ patients had fewer rare variants in COL3A1 than did CTD- patients. In summary, rare variants in several collagen genes are particularly frequent in CM-1 cases and those in COL6A5 co-segregated with CM-1 in a Spanish multiplex family. COL6A5 has been previously associated with musculoskeletal phenotypes, but this is the first association with CM-1. Our findings underscore the contribution of rare genetic variants in collagen genes to CM-1, and suggest that CM-1 in the presence and absence of CTD symptoms is driven by different genes.