Alsowat Daad, Whitney Robyn, Hewson Stacy, Jain Puneet, Chan Valerie, Kabir Nadia, Amburgey Kimberly, Noone Damien, Lemaire Mathieu, McCoy Blathnaid, Zak Maria
Epilepsy Program, Division of Pediatric Neurology, Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Epilepsy Program, Division of Neurology, Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
Child Neurol Open. 2021 May 4;8:2329048X211012817. doi: 10.1177/2329048X211012817. eCollection 2021 Jan-Dec.
We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype.
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.
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.
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.
我们旨在根据基因型进一步阐明结节性硬化症（TSC）的表型谱。
对 Sick Children 医院 TSC 诊所的患者进行回顾性研究，并根据基因型比较 TSC 表现的频率。
19 名患者有 TSC1 突变，36 名有 TSC2 突变，11 名未发现突变（NMI）。TSC2 突变患者早发性癫痫的发生率更高，全身表现更频繁。NMI 组的神经和全身表现较轻。我们的数据并未表明智力残疾和婴儿痉挛在 TSC2 突变中更常见。
这是首个探索加拿大儿科队列中 TSC 基因型-表型关系的研究。我们报告称，某些表现在 TSC2 突变中更频繁且更严重，而 NMI 可能具有较轻的表型。在这一关系得到更好阐明之前，无论基因型如何，都应继续进行疾病监测和咨询。
