French Family Research Articles

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively consistent with Snyder-Robinson syndrome. RT-PCR analysis followed by RNA-sequencing demonstrated that this variant, lead to the synthesis of a predominant aberrant transcript with complete intron 6 retention.

What’s in a Name? Children’s Rights and Legal Voice within Administrative and Juridical Procedures of Recognition of Same-Sex Filiation

This performative text, consisting of writing and visualizations, explores children’s voices within court proceedings connected to the legal recognition of intended mothers within lesbian-parented families. The research used long-term ethnographic observations and biographical interviews focused on French and Italian families from the “activist generation” who devoted their efforts to obtaining reproductive and family rights. The article provides a critical account of the implementation of Article 12.2 of the United Nations Convention on the Rights of the Child 1989 (UNCRC)—that is the right to be listened to in judicial and administrative proceedings affecting children. Our main argument is that, in contrast to the intention of Article 12.2 of the UNCRC, children are given a more symbolic than substantial voice in court proceedings and administrative procedures. The text situates children’s voices both in the wider context and in everyday life. Drawing on ethnographic research data, we show where and to what extent children’s voices emerge or, on the contrary, are silenced. Keywords: same-sex parenting; filiation; children’s rights; ethnography; creative writing; visual methods; performative text; Euro-American kinship; Italy; France.

Taking shared parenting seriously: a comparative study of how family policies accommodate shared physical custody in post-separation households

Shared physical custody (SPC) is a care arrangement following parental separation, whereby children alternatively reside with their mother and father. Very little is known about how family policies accommodate SPC, which is all the more unfortunate, as it represents a key opportunity to understand how family policies can efficiently facilitate shared parenting. To address this gap, this article presents a modest attempt at designing a new comparative family policy approach that considers SPC arrangements, by examining the extent to which Belgian, French and Italian family policies accommodate a more equal sharing of parenting post-divorce. In so doing, we encourage studies of defamilialization to take better account of the diversity of contemporary family forms. The theoretical section traces back key feminist debates around defamilialization and proposes to consider SPC arrangements as an ‘atypical’ family configuration that best illustrates contemporary tensions around defamilialization and gender equality. It also takes stock of the few studies of family policy and SPC to highlight key issues at stake. The analysis section starts with the main characteristics of the family law, welfare regime and family policies of the three countries. Then, we examine a selection of emblematic and national-level family policies from the following areas: (1) Family benefits; (2) Financial support to access to services; and (3) Tax measures. Our comparison focuses on three main criteria: scope; entitlement; and shareability of benefits between parents in the context of SPC. Our analysis reveals the variety of approaches to SPC in family polices across countries and policy areas, and the significant lack of support for a more equitable distribution of parenting within SPC. We conclude by highlighting the usefulness of taking SPC into account in reflecting on and evaluating the implementation of defamilialization policies, and by identifying some of the challenges to be met by future research.

Features of performing parental duties under French family law

In the paper the author conducted a scientific study of the peculiarities of the performance of parental duties under the family law of the French Republic. It is noted that the French Civil Code uses the concepts of "parental authority" and "parental authority" to define the set of personal non-property and property rights of parents in the legal relationship between parents and children. French family law defines parental authority as a set of rights and obligations aimed at ensuring the best interests of the child. Parental authority belongs to the parents until the child reaches the age of majority or emancipation, for the purpose of protecting the child, ensuring the protection of his safety, health, protection of private life and his morality, ensuring his education and development, provided that the child is involved in making decisions related to exercise of parental authority, in accordance with the degree of maturity and age of the child; it cannot be carried out with the use of physical or psychological violence against the child. The main requirements for the exercise of parental authority (parental authority) by French family law are the proportionality of its exercise by each parent in accordance with the capabilities of each parent and the needs of the child); their joint implementation by both parents, unless otherwise established by a court decision in family matters; the emergence of parental rights and obligations on the basis of marriage and the birth of a child in it or within a year after the dissolution of the marriage, on the basis of a joint statement or a court decision in family matters; their termination in case of recognition of the father or mother as incapable, deprivation of parental rights or death; changing the conditions of their implementation by one of the parents is subject to prior and timely informing of the other parent and agreement with him. French family law defines the possibility of transferring (delegating) parental authority to a third party, a family member or trusted relative, a childcare facility or a departmental service for children at the request of the parents, a person, an institution or a service where the child is (while transferring (delegating) is not subject to the right of parents to consent to the adoption of a minor child). According to the French Civil Code, such management is carried out jointly by both parents, and in the case that parental authority is exercised by one of the parents - by the parent who exercises it.

Dystonic Tremor as Main Clinical Manifestation of SCA21.

Spinocerebellar ataxia type 21 (SCA21) is a rare inherited neurological disorder characterized by motor, cognitive, and behavioral disturbances, caused by autosomal dominant TMEM240 variants. To identify the genetic cause of a dystonic tremor with autosomal dominant inheritance. Six subjects of a multi-generational French family affected by tremor and dystonia were studied. Each patient underwent a comprehensive clinical assessment and a whole-exome sequencing analysis. All six subjects presented with early-onset prominent hand dystonic tremor and multifocal/generalized dystonia, secondarily developing mild cerebellar ataxia. The younger generation showed more pronounced cognitive and behavioral impairment. The known pathogenic TMEM240 c.509C>T (p.P170L) variant was found in heterozygosis in all subjects. Dystonic tremor can represent the core clinical feature of SCA21, even in absence of overt cerebellar ataxia. Therefore, TMEM240 pathogenic variants should be considered disease-causing in subjects displaying dystonic tremor, variably associated with ataxia, parkinsonism, neurodevelopmental disorders, and cognitive impairment.

Does female board directorship affect the quality of KPI voluntary disclosure? Some evidence from French family firms

Purpose This paper aims to examine the impact of female board directorship on the quality of key performance indicators voluntary disclosure (hereafter QKPI). Further, this paper explores whether the presence of family board members mitigates the female directors’ effect on the QKPI. Design/methodology/approach This study explores closely held family firms listed on the CAC All-Tradable during 2015–2022. Findings The initial findings provide consistent evidence indicating a positive association between female board directorship and the QKPI. However, testing for the moderating effect of family board members on the linkage between female representation in the company’s boardroom and the QKPI reveals a negative relation. Originality/value This study focuses on gender equality in French-listed companies, a topic that has received little attention from researchers. The country and the period considered in this paper are noteworthy characteristics that enhance the value of this research. This study sheds light on issues concerning the 2016 law that requires quotas for women on boards of directors in French firms.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective

IntroductionTonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described.MethodAfter the antenatal diagnosis of...

MYLK*FLNB and DOCK1*LAMA2 gene-gene interactions associated with rheumatoid arthritis in the focal adhesion pathway.

Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease caused by a combination of genetic and environmental factors. Rare variants with low predicted effects in genes participating in the same biological function might be involved in developing complex diseases such as RA. From whole-exome sequencing (WES) data, we identified genes containing rare non-neutral variants with complete penetrance and no phenocopy in at least one of nine French multiplex families. Further enrichment analysis highlighted focal adhesion as the most significant pathway. We then tested if interactions between the genes participating in this function would increase or decrease the risk of developing RA disease. The model-based multifactor dimensionality reduction (MB-MDR) approach was used to detect epistasis in a discovery sample (19 RA cases and 11 healthy individuals from 9 families and 98 unrelated CEU controls from the International Genome Sample Resource). We identified 9 significant interactions involving 11 genes (MYLK, FLNB, DOCK1, LAMA2, RELN, PIP5K1C, TNC, PRKCA, VEGFB, ITGB5, and FLT1). One interaction (MYLK*FLNB) increasing RA risk and one interaction decreasing RA risk (DOCK1*LAMA2) were confirmed in a replication sample (200 unrelated RA cases and 91 GBR unrelated controls). Functional and genomic data in RA samples or relevant cell types argue the key role of these genes in RA.

Investigation of genetic predisposition to acute lymphoblastic Leukemia in 25 French families

Investigation of genetic predisposition to acute lymphoblastic Leukemia in 25 French families

Apolipoprotein C-III amyloidosis in white lions (Panthera leo).

Apolipoprotein C-III (ApoC-III) amyloidosis in humans is a hereditary amyloidosis caused by a D25V mutation in the APOC3 gene. This condition has only been reported in a French family and not in animals. We analyzed a 19-year-old white lion (Panthera leo) that died in a Japanese safari park and found renal amyloidosis characterized by severe deposition confined to the renal corticomedullary border zone. Mass spectrometry-based proteomic analysis identified ApoC-III as a major component of renal amyloid deposits. Amyloid deposits were also positive for ApoC-III by immunohistochemistry. Based on these results, this case was diagnosed as ApoC-III amyloidosis for the first time in nonhuman animals. Five additional white lions were also tested for amyloid deposition retrospectively. ApoC-III amyloid deposition was detected in 3 white lions aged 19 to 21 years but not in 2 cases aged 0.5 and 10 years. Genetic analysis of white and regular-colored lions revealed that the APOC3 sequences of the lions were identical, regardless of amyloid deposition. These results suggest that ApoC-III amyloidosis in lions, unlike in humans, may not be a hereditary condition but an age-related condition. Interestingly, lion ApoC-III has a Val30 substitution compared with other species of Panthera that have Met30. Structural predictions suggest that the conformation of ApoC-III with Met30 and ApoC-III with Val30 are almost identical, but this substitution may alter the ability to bind to lipids. As with the D25V mutation in human ApoC-III, the Val30 substitution in lions may increase the proportion of free ApoC-III, leading to amyloid formation.

“Entre Deux Transatlantiques”: American Religion and the French Family at the Comédie-Française (1890)

Mormonism, seen in 1865 by French critic Hippolyte Taine as an American religious and social experiment conducted “for our benefit,” appears frequently in French thinking in the second half of the nineteenth century. Whether Taine intended it or not in his use of the word “benefit,” this American religion was mobilized in French conversations about pressing sociopolitical issues such as gender identity, marriage, and the social norms surrounding those issues. Relying on a cultural studies approach, we illustrate in this article how French literary critic and playwright Philippe Gille uses Mormonism in Camille, a play in which he explores issues of gender in the context of the état civil during the Third Republic. First performed at the French national theater (Comédie-Française) in 1890, Gille’s play stages the transatlantic encounter of Franco-American cultures and values as a way to displace questions about the capacity of the French state to regulate marriage and family relationships.

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a G376V-TDP-43 missense variant in the C-terminal prion-like domain of the protein in two French families affected by an autosomal dominant myopathy but not fulfilling diagnostic criteria for ALS. Patients from both families presented with progressive weakness and atrophy of distal muscles, starting in their fifth to seventh decade. Muscle biopsies revealed a degenerative myopathy characterized by accumulation of rimmed (autophagic) vacuoles, disruption of sarcomere integrity and severe myofibrillar disorganization. The G376V variant altered a highly conserved amino acid residue and was absent in databases on human genome variation. Variant pathogenicity was supported by in silico analyses and functional studies. The G376V mutant increased the formation of cytoplasmic TDP-43 condensates in cell culture models, promoted assembly into high molecular weight oligomers and aggregates in vitro, and altered morphology of TDP-43 condensates arising from phase separation. Moreover, the variant led to the formation of cytoplasmic TDP-43 condensates in patient-derived myoblasts and induced abnormal mRNA splicing in patient muscle tissue. The identification of individuals with TDP-43-related myopathy, but not ALS, implies that TARDBP missense variants may have more pleiotropic effects than previously anticipated and support a primary role for TDP-43 in skeletal muscle pathophysiology. We propose to include TARDBP screening in the genetic work-up of patients with late-onset distal myopathy. Further research is warranted to examine the precise pathogenic mechanisms of TARDBP variants causing either a neurodegenerative or myopathic phenotype.

Family Ownership After Going Public: Exploring Nonlinear Effect on Innovation Inputs and the Role of Institutional Investors

Understanding the drivers of innovation in family firms is essential for their survival. While previous studies have mainly investigated innovation behaviours in private or public family firms, we focus on their R&D investment in the year following an IPO. Observing family firms in this context is crucial because it allows to analyse their propensity to innovate when financing constraints are relaxed. This work aims to investigate whether a relationship exists between R&D expenditures and family ownership in the setting of Initial Public Offerings (IPOs). Using a sample of IPOs in the period 2013–2018 by 132 French and Italian family and non-family firms, results reveal the existence of a U-shaped relationship in this regard. In addition, the curvilinear relationship is positively influenced by institutional investors. This study contributes to the debate around family firms’ innovation propensity, as well as to the literature on the heterogeneity among family firms.

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition. Using Next Generation Sequencing (NGS), four novel RELT variants were identified (c.120+1G>A, p.(?); c.120+1G>T, p.(?); c.193T>C, p.(Cys65Arg) and c.1260_1263dup, p.(Arg422Glyfs*5)). Our findings extend the knowledge of ARAI dental phenotypes and expand the disease-causing variants spectrum of the RELT gene.

Breaking the Borders: Elizabeth Gaskell’s Travel, ‘French Life’ and its Spatial Intertextuality

According to the nineteenth-century ideology of separate spheres, women were supposed to avoid the public sphere and to stay at home, as depicted in most artistic and literary representations. Even though much content in her travel writing represented by letters and the journal article ‘French Life’ is about daily living in ordinary foreign societies, I argue that Elizabeth Gaskell is treating some basic questions of human and social values such as class differences and gender distinctions. This paper emphasizes the significance of travel and travel-writing in Gaskell's personal and professional life, examining how her exposure to other cultures shapes her novels and positions her as a cross-cultural literary figure. Combining ESRI technology, I apply the old map (1864, Paris) to it and draw a GIS picture. The route is based on the journal article ‘French Life’ by Gaskell: by comparing it with the locations and landscapes mentioned in Charles Dickens’s The Tale of the Two Cities, I find there is only one overlapping place: Faubourg Saint-Germain. However, the narratives of the two writers about this same place are so different. Multiple layers of mobility are uncovered in ‘French Life’: starting with Gaskell's physical mobility in Paris and the Mohls' residence, followed by an exploration of her social activities within the salon setting as a British writer, and culminating in an analysis of Gaskell's professional development exemplified through her creation during her time with the French families.

The impact of women's work on the French family in Soft Song by Leïla Slimani

Dans cette recherche, nous faisons une étude sur l'impact du travail de la femme sur sa famille au niveau social, culturel et financier. Dans Chanson douce, Myriam est une femme qui veut reprendre le travail après l'accouchement de son deuxième enfant. Elle cherche à prendre son rôle dans le monde du travail et faire preuve de ses capacités à exercer le métier d'avocate. Dès lors, elle doit faire face à plusieurs défis: l'opposition de son mari, le mécontentement de l'entourage familial, la garde des enfants via une baby-sitter, la perte de la liberté familiale, la réconciliation entre les exigences de la famille et celle du travail, la peur de laisser ses enfants chez une nounou étrangère qui pourrait leur nuire et les influencer négativement. Myriam est partagée entre son travail et les devoirs vis-à-vis de sa famille. Faute de temps, elle ne peut deviner ce qui se passe chez elle durant son absence. Les malentendus multipliés entre la famille et Louise, la nounou, celle-ci tue les enfants sans merci afin de mettre fin à ses problèmes.

Changes in French family medicine residents’ perspectives about patient partners’ participation in teaching: A qualitative study in co-facilitated practice exchange groups

Purpose The patient partner in teaching method is progressively developing for clinical training in France. Practice exchange groups (PEG) co-facilitated by patient partners in teaching are used during the training of family medicine (FM) residents. This study explored the FM residents’ perspectives about patient partner in teaching’s participation in co-facilitated PEGs and how they changed over time. Students and methods In 2020, qualitative focus groups were carried out with 26 FM residents before and after a 5-month intervention based on monthly PEGs co-facilitated by patient partners in teaching. A reflective thematic analysis of the focus group interviews was performed according to Braun and Clarke’s approach. Results FM residents supported patient partners in teaching’s facilitation role and had high expectations concerning their contribution to the development of their skills and competencies. They expected patient partners in teaching to bring their individual experience and also a collective knowledge. Some limitations mentioned by FM residents disappeared over time, such as the loss of the medical group feeling among physicians, while others persisted and required pedagogical support targeted to FM residents before PEG initiation. Conclusion This study shows the good acceptance of patient partners in teaching by FM residents in the context of PEGs. Attention should be paid to make FM residents aware of patient partners in teaching’s missions before their introduction.

The Institution of the Maintenance of Minors in France and England and Wales in the Light of Historical Development

The paper gives an overview of the institution of the maintenance of minors in France and in England and Wales in the light of historical development, by giving a glimpse into the main reforms of French and English family law. In France, the institution is regulated in the Civil Code, in England, separate acts establish the basic concepts and principles. In both countries underage children are entitled to maintenance and the obligation does not cease, when they reach the legal age. The parents are the primary obligees. The principles of calculating the amount of maintenance are similar, the parents’ income conditions and the children’s needs and education are taken into account. The basic principles, the material law aspects are very similar between the two states, but from the procedural law point of view they have different systems.

The Impact of Western Civilization on Forests in Barkskins

This research article very critically scrutinizes how forests in North America are devastated by the growing human civilization. It deals with ecological degradation in an American novelist Annie Proulx’s novel Barkskins whose location is North America. In course of analysing the novel critically, the article describes how Barkskins revolves round the story of white colonists and indigenous Indians in North America or today’s Canada. Firstly, it reveals how two families: Sel family (a poor biracial family of French and Mi’kmaq) that cuts trees and Duke family (rich French family) that does business of fur are linked to trees and deforestation. Secondly, the article focuses on the impact of western civilization on forests regarding forests as the antagonist to western civilization. Western colonialism is also a vehicle of civilization that causes deforestation. Due to civilization, humanism is developed. So, anthropocentric nature of people causes deforestation. Thirdly, European civilization has a negative impact on Indigenous people and their culture. Apparently, forests are shown as a symbol of darkness, evil forces, backwardness and an obstacle for human progress, but in the name of civilization, whites do deforestation due to their greed of colonization and anthropocentric nature. Hence, the first objective of the research is to explore why the whites regard forests as the antagonist to civilization. Likewise, the second objective of the article is to discover the real cause of them to do deforestation. Besides, as for the broad theoretical methodology, Greg Garrard’s theory of Ecocriticism is applied for the textual analysis of Barkskins since the article deals with the ecological destruction of North America by whites and ecocriticism has emerged as a response to the heavy damage done to ecology by human beings.

Phenotype and imaging features associated with APP duplications

BackgroundAPP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers.MethodsClinical, radiological, and neuropathological features of 43 APP duplication carriers from 24 French families were retrospectively analyzed, and MRI features and cerebrospinal fluid (CSF) biomarkers were compared to 40 APP-negative CAA controls.ResultsMajor neurocognitive disorders were found in 90.2% symptomatic APP duplication carriers, with prominent behavioral impairment in 9.7%. Symptomatic intracerebral hemorrhages were reported in 29.2% and seizures in 51.2%. CSF Aβ42 levels were abnormal in 18/19 patients and 14/19 patients fulfilled MRI radiological criteria for CAA, while only 5 displayed no hemorrhagic features. We found no correlation between CAA radiological signs and duplication size. Compared to CAA controls, APP duplication carriers showed less disseminated cortical superficial siderosis (0% vs 37.5%, p = 0.004 adjusted for the delay between symptoms onset and MRI). Deep microbleeds were found in two APP duplication carriers. In addition to neurofibrillary tangles and senile plaques, CAA was diffuse and severe with thickening of leptomeningeal vessels in all 9 autopsies. Lewy bodies were found in substantia nigra, locus coeruleus, and cortical structures of 2/9 patients, and one presented vascular amyloid deposits in basal ganglia.DiscussionPhenotypes associated with APP duplications were heterogeneous with different clinical presentations including dementia, hemorrhage, and seizure and different radiological presentations, even within families. No apparent correlation with duplication size was found. Amyloid burden was severe and widely extended to cerebral vessels as suggested by hemorrhagic features on MRI and neuropathological data, making APP duplication an interesting model of CAA.