الفهرس | Only 14 pages are availabe for public view |
Abstract It is a rare genetic condition, one in every six thousand people globallyDue to inadequate penetration and significant interindividual phenotype diversity in TSC patients, its frequency was previously misunderstood. TSC can affect multiple organs, showing growths that appear primarily. The clinical presentation of the illness evolves in a predictable way throughout life. Many persons are initially diagnosed by pathologically indicative skin signs or later after enduring seizures. TSC is caused by TSC 1 or TSC 2 variations. Although it is autosomal-dominantly inherited, a great deal of cases are thought to result from apparent fresh variations. The aim of this work was to study TSC in a group of Egyptian children and molecular analysis TSC to unravel genetic etiology in the studied cohort and offering them an appropriate genetic counselling. The study was carried out on 24 children (<18 year) who were diagnosed clinically with tuberous sclerosis, recruited from Human Genetics Department, Medical Research Institute and Pediatric Neurology Outpatient Clinic of Alexandria University Children Hospital (AUCH) of; faculty of medicine. All the patients were subjected to detailed genetic history taking, pregnancy and delivery history, complete clinical genetic examination with special emphasis on clinical phenotype, pedigree analysis, clinical photography, and various investigations according to individual cases. The clinically suspected TSC cases were included in the molecular study using NGS panel testing. Summary, Conclusions and Recommendations 76 The results of this study revealed the following: • After a thorough clinical evaluation and complete work up of the studied cases - Six cases (25%) had a positive family history. - Epilepsy and any of TAND were the most prevalent manifestations (100%) - Gingival fibroma (8%), periungual fibroma (8%), sclerotic bone lesions (4%), and molluscum fibrosum (4%) were the rarest findings. - There were no cases manifesting dental enamel pits, a retinal achromic patch, or lymphangiomyomatosis. Molecular study: NGS panel for TSC1 and TSC2 revealed 19 likely pathogenic/pathogenic in TSC2 and only one case with pathogenic variant in TSC1 whereas 4 cases had NMI. Moreover, 2 cases had large deletions including TSC2 and other neighbor genes. 7 variants have never been reported before in the databases or the literature |