Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex

Area of Science:

• Genetics and Molecular Biology
• Clinical Medicine
• Rare Diseases

Background:

• Tuberous Sclerosis Complex (TSC) is a genetic disorder with varied clinical presentations.
• Existing research on TSC genotype-phenotype correlations primarily focuses on pediatric populations.
• Limited data exists on TSC manifestations and severity in adult patients.

Purpose of the Study:

• To characterize the relative frequencies of molecular and phenotypic traits of TSC in Canadian adults.
• To compare TSC manifestation trends with genetic variants in an adult cohort.

Main Methods:

• Retrospective chart review of adult patients diagnosed with TSC.
• Data collected from the University Health Network genetics clinics in Toronto, Ontario.
• Analysis of TSC manifestations in relation to identified genetic variants (TSC1, TSC2) or lack thereof.

Main Results:

• Fifty-one adult patients were included in the study.
• Tuberous Sclerosis Complex 2 (TSC2) pathogenic variants were associated with increased multi-system involvement.
• Patients with TSC2 variants showed a higher frequency of TSC-related manifestations compared to other genetic groups.

Conclusions:

• Genotype-phenotype trends in adults with TSC appear consistent with previous pediatric studies.
• A multidisciplinary approach is crucial for managing and surveilling adults with TSC.
• Further research is needed to better understand genotype-phenotype correlations in adult TSC patients.