الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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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
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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