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. 2021 May 4:8:2329048X211012817.
doi: 10.1177/2329048X211012817. eCollection 2021 Jan-Dec.

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

Daad Alsowat  1 , Robyn Whitney  2 , Stacy Hewson  3 , Puneet Jain  4 , Valerie Chan  4 , Nadia Kabir  4 , Kimberly Amburgey  3 , Damien Noone  5 , Mathieu Lemaire  5 , Blathnaid McCoy  4 , Maria Zak  4
Affiliations

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

Daad Alsowat et al. Child Neurol Open. .

Abstract

Objective: We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype.

Methods: A retrospective review of patients seen in the TSC clinic at the Hospital for Sick Children was conducted and the frequency of TSC manifestations was compared based on genotype.

Results: Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI). Patients with TSC2 mutations had a higher frequency of early-onset epilepsy and more frequent systemic manifestations. The NMI group had milder neurologic and systemic manifestations. Our data did not demonstrate that intellectual disability and infantile spasms were more common in TSC2 mutations.

Conclusions: This is the first Canadian pediatric cohort exploring the genotype-phenotype relationship in TSC. We report that some manifestations are more frequent and severe in TSC2 mutations and that NMI may have a milder phenotype. Disease surveillance and counseling should continue regardless of genotype until this is better elucidated.

Keywords: genotype; no mutation identified (NMI); phenotype; surveillance; tuberous sclerosis complex (TSC).

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Conflict of interest statement

Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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