We interviewed 100 women who had married a relative and 100 other women of the same age, religious affiliation, and socioeconomic status, but who were not related to their husbands. Both women were selected from a hospital setting in Beirut, and were questioned about their outlook on consanguineous marriages, their awareness of the genetic consequences of consanguinity, and their relationships with in-laws. In general, the women in consanguineous marriages were more favorably inclined than the matched women to marriages between relatives; however, about half of each group would advise their son/daughter to marry his/her cousin. Awareness of the genetic consequences of consanguinity was wide-spread among the respondents, although the women who had married a relative were reluctant to express it. These women also reported better relationships with in-laws, which may be considered as a social benefit derived from consanguineous marriages. Based on the above findings, recommendations are made regarding the content of a public health educational program.
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http://dx.doi.org/10.1002/ajmg.1320250215 | DOI Listing |
Cureus
December 2024
Community Medicine, Shri. B. M. Patil Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, IND.
Background Consanguineous marriages, defined as unions between closely related individuals, are influenced by a complex interplay of cultural, social, economic, religious, and demographic factors. These marriages are prevalent among communities such as Hindus, Muslims, Jews, Buddhists, Christians, and Parsis in Southern and Western Asia, with significant regional variations within India. There is a lack of appropriate decision-making among women in consanguineous unions, particularly those with a low level of educational attainment, which leads to an increase in the prevalence of consanguineous marriages.
View Article and Find Full Text PDFSci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFNeurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFEur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
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