Publications by authors named "Saud Takroni"
Heterotaxy (HTX) is a group of clinical conditions with a shared pathology of dislocation of one or more organs along the left-right axis. The etiology of HTX is tremendously heterogeneous spanning environmental factors, chromosomal aberrations, mono/oligogenic variants, and complex inheritance. However, in the vast majority of cases, the etiology of HTX remains elusive.
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- Childhood-onset thoracic aortic dilatation (TAD) is primarily a genetic condition with dominant inheritance, and this study investigates its correlation with consanguinity in a specific population.
- Among the 33 children studied, a significant 65% had positive genetic tests, revealing mutations in multiple genes, including a notable homozygous variant in the EFEMP2 gene.
- The findings emphasize the importance of genetic screening for early detection and intervention, which can lead to positive outcomes, as all patients in the study are currently alive despite the severe nature of their condition.
Genetic services are rapidly growing in the Arab world leading to increasing number of patients being diagnosed with genetic disorders. Islam is the only/major religion of the local population in these countries. Muslim patients integrate religion in virtually every aspect of their lives, and it is vital to understand the role of Islam on their coping and decision-making in the context of genetic counseling.
View Article and Find Full Text PDFBackground: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale.
Methods: To unravel the genetic cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was adopted.