Iranian Family Research Articles

Economic Sanctions and the Material Well-being of Iranian Older Adults: Do Pensions Make a Difference?

Economic sanctions have inflicted various economic difficulties on Iranian families. The extent to which these sanctions-induced calamities have affected Iranian older adults’ material well-being remains unknown. Meanwhile, inadequate institutional support for the disadvantaged older population may worsen their precarious economic well-being. We use household-level surveys and quantile regression analysis to explore changes in Iranian older persons’ material well-being during the sanctions era. We also examine whether Iran’s pension system has alleviated the adverse effects of economic sanctions. Our investigation indicates that older adults’ material well-being decreases during sanctions. However, those without pension coverage are economically more vulnerable compared with pensioners. Among the non-pensioners, low-income and low-consumption ones are susceptible to relatively more considerable material well-being losses. To protect these vulnerable groups, policymakers should implement appropriate policy interventions, such as expansions in non-contributory anti-poverty schemes.

Whole-exome sequencing revealed a novel ERCC8 variant in an Iranian large family with Cockayne syndrome

BackgroundCockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. The excision repair cross complementing protein group 6 (ERCC8) gene, which codes for the CS group A (CSA) protein, is usually mutated in cases of CS. MethodWe show two Iranian families who have significant speech delay, microcephaly, developmental delay, and notable growth failure. We have discovered a unique homozygous missense variant (c.742G > T) in CSA in an Iranian family with CS, which we discovered using whole exome sequencing as well. ResultsIn two related probands, we found a homozygous variant (c.742G > T) in the ERCC8 gene that we believe to be a unique pathogenic mutation. ConclusionWES results together with the characteristic clinical manifestations of Cockayne syndrome, provided an accurate diagnosis for two families. Also, our study identified novel variants in Iranian families.

Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.

Primary autosomal recessive microcephaly (MCPH) is a rare developmental disorder characterized by cognitive impairment, delayed neurodevelopment, and reduced brain size. It is a genetically heterogeneous condition, and several genes have been identified as associated with MCPH. In this study, we utilized whole-exome sequencing (WES) to identify disease-causing variations in two brothers from an Iranian family affected by MCPH, who had consanguineous parents. In the patients, we detected a novel homozygous missense mutation (c.806A > G, p.Gln269Arg) in the TEDC1 gene in one of the patients. Co-segregation analysis using Sanger sequencing confirmed that this variant was inherited from parents. The identified variant was evaluated for its pathogenicity and novelty using various databases. Additionally, bioinformatics tools were employed to predict the three-dimensional structure of the mutant TEDC1 protein. This study presents the second documented report of a mutation in the TEDC1 gene associated with MCPH. The identification of this novel biallelic mutation as a causative factor for MCPH in the proband further underscores the utility of genetic testing techniques, such as WES, as reliable diagnostic tools for individuals with this condition.

A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia.

Both non-obstructive azoospermia (NOA) and primary ovarian insufficiency (POI) are pathological conditions characterized by premature and frequently complete gametogenesis failure. Considering that the conserved meiosis I steps are the same between oogenesis and spermatogenesis, inherited defects in meiosis I may result in common causes for both POI and NOA. The present research is a retrospective investigation on an Iranian family with four siblings of both genders who were affected by primary gonadal failure. Proband, an individual with NOA, was subjected to clinical examination, hormonal assessment, and genetic consultation. After reviewing the medical history of other infertile members of the family, patients with NOA went through genetic investigations including karyotyping and assessment of Y chromosome microdeletions, followed by Whole exome sequencing (WES) on the proband. After analyzing WES data, the candidate variant was validated using Sanger sequencing and traced in the family. WES analysis of the proband uncovered a novel homozygote nonsense variant, namely c.118C>T in MSH4. This variant resulted in the occurrence of a premature stop codon in residue 40 of MSH4. Notably, the variant was absent in all public exome databases and in the exome data of 400 fertile Iranian individuals. Additionally, the variant was found to co-segregate with infertility in the family. It was also observed that all affected members had homozygous mutations, while their parents were heterozygous and the fertile sister had no mutant allele, corresponding to autosomal recessive inheritance. In addition, we conducted a review of variants reported so far in MSH4, as well as available clinical features related to these variants. The results show that the testicular sperm retrieval and ovarian stimulation cycles have not been successful yet. Overall, the results of this study indicate that the identification of pathogenic variants in this gene will be beneficial in selecting proper therapeutic strategies. Also, the findings of this study demonstrate that clinicians should obtain the history of other family members of the opposite sex when diagnosing for POI and/or NOA.

RIFNET. A new agenda for the Irish family: messy realities & messier lives

ABSTRACT This special issue introduces new research on historical approaches to the Irish family. The articles in this collection have grown out of the Reconstituting the Irish Family Research Network (RIFNET), an interdisciplinary research cluster of scholars working on the Irish family. Covering families and family life from the eighteenth to the twentieth centuries, the issue explores several themes, including marriage, divorce, and separation; queer families and queer approaches to the family; pets, kinship, and non-human families; sibling relationships and migrating families. The publication of this special issue provides a timely reassessment of meanings and experiences of family in Ireland, coinciding with the March 2024 referendum on the Irish Constitution. The articles in this collection stand testament to the rich diversity of family forms and family experiences in Ireland, both past and present, and chart new pathways to guide future research.

The Irish family, marital breakdown and the Josie Airey case, c. 1974-1981

Centring the role of women, particularly Josie Airey, this article outlines the activism and legal process that led to improvements in family law and the provision of civil legal aid for the first time by the Republic of Ireland. In tandem with the gradual liberalisation of Irish family law, the question of the provision of civil legal aid was set alight by the legal proceedings brought against the state by Josie Airey, which went all the way to the European Court of Human Rights in 1973; though a ruling was not issued until 1979. In a country where society, the polity, the Catholic hierarchy and the Constitution demonstrated a deep fealty to the heteronormative model of family within marriage, and where a constitutional ban on divorce remained intact until 1996, this article explores the contextual significance of these developments in Irish society. Part one provides a systematic analysis of the changing legal status of married women from 1964-1976, connecting these changes directly with feminist activism. Part two examines the formation of the Free Legal Advice Campaign (FLAC), the Josie Airey case and the resultant limited system of free legal aid provided by the state from 1980. It is argued that feminist activism and the additional statutory pressure of Ireland’s status as an EEC member state were key factors for reform. Crucially, this research places the outcome of the Josie Airey case in the historical chronology of the expansion of married women’s rights, underscoring its importance in terms of public awareness of the intransigence of the Irish state in this area.

‘Came to her dressed in mans cloaths’: transgender histories and queer approaches to the family in eighteenth-century Ireland

ABSTRACT This article engages with queer and trans scholarship to produce a methodological think-piece on how to queer the Irish family. It draws on a case study of alleged crossdressing and attempted intimacy that was recorded in the Kirk Session (church court) minute book of the Irish Presbyterian congregation of Templepatrick, County Antrim. In March 1706, a woman named Margaret McCal appeared before Templepatrick Kirk Session and lodged a complaint against a fellow church member. Margaret alleged that an individual known to her as Elizabeth McIlroy had approached her ‘Dressed in mans cloaths’, called themselves ‘David Campbell’ and ‘pretend[ed] courtship to her’. How do we understand this case? What can Margaret’s story tell us about gender, sex, and relationships in eighteenth century Ireland? Moving beyond a reading of the Templepatrick case as a simple instance of crossdressing, this article opens up new discursive pathways in histories of gender and the Irish family by situating it within a trans historical framework. In response to the calls of trans and queer scholars to ‘denaturalise the cisgender turn’, the article begins by interrogating the Presbyterian archive as a cisnormative and heteronormative construction. Next, it offers a trans reading of the case and situates David Campbell, not simply as a woman dressed in men’s clothing but as an individual who moved through the world at particular points in time as a man. Finally, the article ends by queering our understanding of female desire by unsettling the relationship between sex and gender in the pursuit of its fulfilment. Albeit based on one case-study, the story of David and Margaret captures an extraordinary – yet, as I will argue, very ordinary, intimate encounter that has important implications for our understanding of the family in Ireland.

‘Glad to the heart to see any of my brothers’: exploring Irish family life through sibling relationships

ABSTRACT This article proposes using the sibling relationship as an historical lens into nineteenth-century Ireland. Often taken for granted in historiography, brothers and sisters influenced family financial decisions and provided emotional support to each other in childhood, adulthood, and into old age. They were members of each other’s social networks and could be a cause of worry, conflict, and tension within the home. As the longest-lasting relationship an individual experiences, siblings provide a unique vantage point for the historian to explore the role of family in society across the life cycle. Their presence, or lack thereof, is vital to a sibling’s identity. Whilst individuals shape their own identity in relation to their family and peers, people have their own ambitions, successes, and failures. Tracing these interactions allow the historian to similarly trace wider social and cultural change. This article uses two sets of siblings to explore how brothers and sisters consciously kept family connection, utilised it in times of crisis, and benefited from sibling support networks. Separated through migration, the migrant letters exchanged between the Sinclair family in County Tyrone and Philadelphia shed light on the emotional toll of migration and provide insight into everyday life in rural Ireland. Making use of genealogical methodologies and digitised collections, this article reveals how family stories can be pieced together using fragmentary sources across a diverse range of archives. A horizontal approach elucidates wider societal changes over generations of the family. This article uses the sibling relationship to unravel complex family networks and explore nineteenth-century Irish society through the family lens.

Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene.

Intellectual disability (ID) represents a significant health challenge due to its diverse and intricate nature. A multitude of genes play a role in brain development and function, with defects in these genes potentially leading to ID.Considering that many of these genes have yet to be identified, and those identified have only been found in a small number of patients, no complete description of the phenotype created by these genes is available. CC2D1A is one of thegenes whose loss-of-function mutation leads to a rare form of non-syndromic ID-3(OMIM*610055), and four pathogenic variants have been reported in this gene so far. n the current study, two affected females were included with an initial diagnosis of ID who were from an Iranian family with consanguineous marriage. Whole-exome sequencing was used to identify the probable genetic defects. The Genotypic and phenotypic characteristics of the patients were compared with a mutation in the CC2D1A gene, and then the structure of the gene and its reported variants were investigated. The patients carried a novel homozygous splicing variant (NM_017721, c.1641+1G>A) in intron 14, which is pathogenic according to the ACMG guideline. Loss-of-function mutations in CC2D1A have severe phenotypic consequences such as ID, autism spectrum disorder (ASD), and seizures. However, missense mutations lead to ASD with or without ID, and in some patients, they cause ciliopathy. This study reports the fifth novel, probably pathogenic variant in the CC2D1A gene. Comparing the clinical and molecular genetic features of the patients with loss-of-function mutation helped to describe the phenotype caused by this gene more precisely. Investigating theCC2D1Agene's mutations and structure revealed that it performs multiple functions. The DM14 domain appears more pivotal in triggering severe clinical symptoms, including ID, than the C2 domain.

Modeling the National Pattern of Sports Development in Iranian Families

Modeling the National Pattern of Sports Development in Iranian Families

GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family

GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family

Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.

Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) 1, associated with a spectrum of autoimmune and neurodegenerative manifestations. AGS 1, the most severe neonatal type of AGS, is characterized by abnormal neurologic findings, visual inattention, hepatosplenomegaly, thrombocytopenia, skin rash, restlessness, and fever. The present study described two affected siblings from an Iranian family whose phenotypes overlap with intrauterine infections. They had almost similar presentations, including developmental delay, microcephaly, no fix and follow epileptic seizures and the same pattern of brain CT scan involvements. Following clinical and paraclinical assessments, whole-exome sequencing was employed to determine the disease-causing variant, and subsequently, PCR-Sanger sequencing was performed to indicate the segregation pattern of the candidate variant in family members. Genetic analysis revealed a novel homozygous missense variant (c.461A>C; p.D154A) in the TREX1 gene in affected family members. Sanger sequencing of other family members showed the expected zygosities. This study identifies a novel mutation in the TREX1 gene in this family and highlights the efficiency of next-generation sequencing-based techniques for obtaining a definite diagnosis in patients with early-onset encephalopathy.

Identification of Psychological Issues in Adoptive Families in Iran and Proposing Solutions for Their Adaptation

Objective: The need for children and adolescents to have a space conducive to growth has led to the widespread selection of adoption as a means to complete a family. With the hope of enhancing the well-being of the child and the family and aimed at identifying the psychological issues of Iranian adoptive families and proposing solutions for their adaptation, this study was conducted. Methods and Materials: The research method, in both stages, was qualitative and followed the grounded theory approach according to Strauss and Corbin. Initially, to find the problems of adoptive families, an interview was conducted with a representative from each of the 13 families in 2022. In the next stage, the results of the first phase of the research were presented to experts, and their proposed solutions were obtained. Data analysis was performed using maxqda2020 software. Ethical considerations were observed at all stages. Findings: In the first phase of problem identification, 4 concepts emerged: issues related to child development in an environment of social harm, legal-psychological problems, issues related to attitudes, and problems associated with the resilience of couples. From the next stage, 4 groups of adaptation solutions were extracted, including explaining the what, how, and why of adoption in Iran (knowledge enrichment), practical solutions to solve problems, intervention strategies for family resilience, and attitude change strategies. Problems related to attitudes and worldviews were the causal conditions for other issues. In the end, the final model was presented. Knowledge enrichment, correction and improvement of attitudes, increasing parental resilience, making legal reforms, and removing executive obstacles should be prioritized in this field. Conclusion: Conditions should be facilitated so that volunteer parents can share their experiences and researchers can conduct scientific studies in this field. This facilitates better decision-making and creates more confidence for families with a suitable mental background to start this journey. Additionally, the need for psychological support from welfare for families should be considered in planning.

Continuity Through Regeneration and Resilience: Key Metrics of Success and Sustainability for Irish Family Businesses

Continuity Through Regeneration and Resilience: Key Metrics of Success and Sustainability for Irish Family Businesses

Two novel variants in the SLC25A38 gene among two Iranian families with congenital sideroblastic anemia

Congenital Sideroblastic Anemia (CSA) is a rare genetic disease caused by mutations in genes related to heme synthesis pathway, FeS cluster and mitochondrial protein synthesis. Changes in the SLC25A38 gene have been reported as one of the reasons of non syndromic autosomal recessive congenital sideroblastic anemia.In this study we had two patients in two families with the symptoms of CSA. After performing Whole Exome Sequencing (WES), a novel nonsense variant (c.166C > T, p.Gln56Ter) and a novel frameshift variant (c.220_221insTTCA, p.Leu75HisfsTer79) in the SLC25A38 gene were identified in the families.Then, Sanger sequencing and segregation analysis were used to confirm the variants. The sequencing confirmed that these variants were homozygous in each proband and heterozygous in their parents.After that, the variant effects and its pathogenicity were evaluated using different bioinformatics analysis which identified the existing variant as pathogenic in more cases.The results of real-time PCR also showed that the level of mRNA expression of the gene in the patient with nonsense variant was significantly down-regulated compared to the normal person (p < 0.001).This is one of the first studies about the sideroblastic anemia in Khuzestan province of Iran and its results could indicate the relationship between this gene and CSA in this population. Our findings suggests that the mentioned variants, in an allele of the SLC25A38 gene, by alone, not enough to cause disease. This study also increases the list of mutations involved in the SLC25A38 gene and raises our knowledge about the role of this gene in CSA disease and would be very useful for screening in populations.

Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy

BackgroundDilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. Whole-exome sequencing (WES) is a powerful tool to identify variants underlying genetic cardiomyopathies. Via WES, we sought to identify DCM causes in a family with 2 affected patients.MethodsWES was performed on the affected members of an Iranian family to identify the genetic etiology of DCM. The candidate variant was segregated via polymerase chain reaction and Sanger sequencing. Computational modeling and protein-protein docking were performed to survey the impact of the variant on the structure and function of the protein.ResultsA novel single-nucleotide substitution (G > A) in exon 9 of MED12, c.1249G > A: p.Val417Ile, NM_005120.3, was identified. The c.1249G > A variant was validated in the family. Bioinformatic analysis and computational modeling confirmed that c.1249G > A was the pathogenic variant responsible for the DCM phenotype.ConclusionWe detected a novel DCM-causing variant in MED12 using WES. The variant in MED12 may decrease binding to cyclin-dependent kinase 8 (CDK8), affect its activation, and cause alterations in calcium-handling gene expression in the heart, leading to DCM.

Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.

Thoracic aortic aneurysm (TAA) is a multifactorial disorder. Familial TAA, which is more clinically aggressive, is associated with a high risk of lethal dissection or rupture. Genetic evaluation can provide TAA patients with personalized treatment and help in predicting risk to family members. The purpose of this investigation was to report a likely pathogenic variant in the EFEMP2 gene that may contribute to TAA in a family with a documented history of the condition. In the index patient, the causative genetic predisposition was identified using whole-exome sequencing. The potential likely pathogenic effect of the candidate variant was further analyzed through bioinformatics analysis, homology modeling, and molecular docking. The results revealed a likely pathogenic heterozygous variant, c.247C>T p.Arg83Cys, in exon 4 of the EFEMP2 gene (NM_016938), which was predicted to have disease-causing effects by MutationTaster, PROVEAN, SIFT, and CADD (phred score = 27.6). In this study, a likely pathogenic variant in the EFEMP2 gene was identified in an Iranian family with a dominant pattern of autosomal inheritance of TAA. This finding underscores the importance of conducting molecular genetic evaluations in families with nonsyndromic TAA and the significance of early detection of at-risk family members.

Experiences of UK and Irish family carers of people with profound and multiple intellectual disabilities during the COVID-19 pandemic

BackgroundPeople with profound and multiple intellectual disabilities (PMID) have high and intensive support needs that ordinarily place significant strain on family carers. This was further heightened by the removal of many external supports during the COVID-19 pandemic. We sought to explore the experiences of family carers of people with PMID during the COVID-19 pandemic and understand what the longer-term impact might be on their lives.MethodsFocus group interviews (n = 32) were conducted with family carers (n = 126) from the four countries of the UK and the Republic of Ireland. Participants were asked questions relating to their experiences of the COVID-19 pandemic, coping strategies, and challenges faced. All focus groups were conducted using the online platform, Zoom. These were audio recorded, transcribed verbatim and analysed employing inductive thematic analysis.FindingsThree main themes were generated from the data including (1.0) COVID-19 as a double-edged sword (2.0), The struggle for support (3.0), Constant nature of caring. These included 11 subthemes. (1.1) ‘COVID-19 as a catalyst for change’, (1.2) ‘Challenges during COVID-19: dealing with change’, (1.3) ‘Challenges during COVID-19: fear of COVID-19’, (1.4); ‘The online environment: the new normal’ (2.1) ‘Invisibility of male carers’, (2.2) ‘Carers supporting carers’, (2.3) ‘The only service you get is lip service: non-existent services’, (2.4); ‘Knowing your rights’ (3.1) ‘Emotional response to the caring role: Feeling devalued’, (3.2) ‘Emotional response to the caring role: Desperation of caring’, (3.3) ‘Multiple demands of the caring role.’ConclusionsThe COVID-19 pandemic presented immense challenges to family carers of people with PMID but also provided some opportunities. Families had already struggled to receive many of the supports and services to which they were entitled to only to have these removed at the onset of the pandemic. The experiences of male carers have been largely absent from the literature with this research showing they want to be included in decision making and require tailored support services. Service providers should see the end of the COVID-19 pandemic as providing opportunity to re-examine current provision and design services with family carers. As the direct threat from COVID-19 diminishes and the experiences of those who lived through this period come to the fore, there is a need to re-examine current models and provision of support to family carers to better meet their needs.

Construction and Psychometric Properties of Family-Oriented &amp; Developmental-Based Sexuality Education Questionnaire for Iranian Families: Online National Research

Background: Sexual education is one of the required and challenging areas for empowering families. It seems necessary to use appropriate tools in identifying and promoting the sexual education of parents. Objectives: This study aimed to investigate the construction and psychometric characterization of the Family-oriented and Developmental-based Sexuality Education Questionnaire for Iranian families. Methods: In this descriptive and survey research, the statistical population included all Iranian families in 2021. A number of 1,024 people throughout Iran were selected as the research sample using online sampling. The data were gathered through the Parental Sexual Education Style Questionnaire (PSESQ), Parental Self-efficacy Scale (PSES), and Family-oriented and Developmental-based Sexuality Education Questionnaire (F&amp;DSEQ). The data were analyzed using Cronbach's alpha coefficient, correlation coefficient, and exploratory factor analysis in SPSS 26 and AMOS 24 software. Results: Three factors were extracted from the exploratory and factor analysis, including eleven factors in three general factors (sexuality education knowledge, attitude, and skills). These eleven factors could explain 58.319% of the variance in 58 items of the questionnaire. Cronbach's alpha coefficient was 0.92 for the whole questionnaire. Also, Cronbach's alpha of the components was in the range of 0.65 to 0.92. Conclusions: The Family-oriented and Developmental-based Sexuality Education Questionnaire has good reliability and validity and can be used to measure sexuality education knowledge, attitude, and skills. Therefore, F&amp;DSEQ can be used in research, care, and educational interventions by specialists in the fields of nursing, midwifery, psychology, and family counseling.

Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.

Methylmalonic aciduria is a rare inherited metabolic disorder with autosomal recessive inheritance pattern. There are still MMA patients without known mutations in the responsible genes. This study aimed to identify mutations in Iranian MMA families using autozygosity mapping and NGS. Multiplex PCR was performed on DNAs isolated from 12 unrelated MMA patients and their family members using 19 STR markers flanking MUT, MMAA, and MMAB genes, followed by Sanger sequencing. WES was carried out in the patients with no mutation. Haplotype analysis and Sanger sequencing revealed two novel, mutations, A252Vf*5 and G87R, within the MMAA and MUT genes, respectively. Three patients showed no mutations in either autozygosity mapping or NGS analysis. High-frequency mutations within exons 2 and 3 of MUT gene and exon 7 of MMAB gene are consistent with the global expected frequency of genetic variations among MMA patients.