Riyadh, January 01, 2024, A team of Saudi researchers from King Abdullah Children's Specialist Hospital (KACSH) and King Abdullah International Medical Research Center (KAIMRC) has identified and named a new genetic disorder called Alfadhel Syndrome. The syndrome has received official recognition and listing in the Online Mendelian Inheritance in Man (OMIM) database, operated by Johns Hopkins University.
The syndrome, named after Professor Majid Alfadhel, the leader of the research team, is characterized by distinct facial features and may result in intellectual disability and delayed speech development in affected individuals.
In their study titled "Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay," the research team focused on four individuals with Alfadhel Syndrome, all of whom presented with intellectual disability, global developmental delay (GDD), and hypotonia (decreased muscle tone). The study revealed that mutations in the RAP1GDS1 gene, which is highly expressed in different tissue types, including the brain, are associated with the syndrome.
This groundbreaking research contributes to the medical field and aligns with the goals of Saudi Vision 2030 to enhance healthcare and well-being in the Kingdom. The identification and characterization of Alfadhel Syndrome provide valuable insights into genetic disorders, furthering the understanding of their causes and potential treatments.
