Genetic analysis of 18 families with tuberous sclerosis complex

Yin, Kaili; Lin, Nan; Lu, Qiang; Jin, Liri; Huang, Yan; Zhou, Xiya; Xu, Kai‐Feng; Liu, Qing; Zhang, Xue

doi:10.1007/s10048-022-00694-5

Cited by 1 publication

(2 citation statements)

References 34 publications

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“…Other affected cellular processes include the ones of glycolysis, angiogenesis, lipid synthesis, suppression of autophagy, mitochondrial biogenesis, and inflammation/immune regulation. 9,11,14 mTORC1 is a serine-threonine kinase, composed of mTOR, RAPTOR, MLST8, PRAS40, and DEPTOR. It plays a key role in regulation of metabolism, nutrient and growth signaling and also is involved in the coordination of lysosomal binding.…”

Section: Pathophysiologymentioning

confidence: 99%

“…They are typically made up of cell types native to the host organ or tissue, hamartomas often present symptoms related to the disruption or invasion of the specific structure of that organ or tissue. 1,2,14,15 GENETIC BASIS Clinical and genetic features are related and thus influence the course of the disease. Patients with TSC2 mutations appear to experience an earlier onset of symptoms, with an average age of onset approximately 7 years earlier than those with TSC1 mutations.…”

Section: Pathophysiologymentioning

confidence: 99%

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The tuberous sclerosis complex: a review of the literature

Bonilla,

Rodriguez Ceja,

Garcia Santiago

et al. 2024

Int J Contemp Pediatr

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Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, this leads to dysregulation of the mechanistic target of rapamycin (mTOR) pathway resulting in cellular hyperplasia and the formation of benign tumors in various organs, including the brain and skin. Clinical manifestations encompass a wide range of mainly neurological and dermatological symptoms, often presenting during early childhood and posing diagnostic challenges due to phenotypic variability. Recent advancements in diagnostic criteria, genetic testing, and imaging techniques have facilitated earlier diagnosis and increased disease incidence awareness. Neurologically, TSC commonly presents with cortical tubers, subependymal nodules (SENs), and epilepsy, with seizure control being paramount in preventing long-term neurodevelopmental sequelae. Dermatologically, hypomelanotic macules, facial angiofibromas, and ungual fibromas are hallmark features, often causing significant psychological distress due to disfigurement. Management of TSC requires a multidisciplinary approach, with emerging therapies such as mTOR inhibitors showing promise in addressing both neurological and dermatological manifestations. Early intervention, including epilepsy surgery and targeted treatments for skin lesions, is essential for optimizing outcomes and improving the quality of life for patients with TSC. Continued research into novel therapeutic modalities holds potential for further enhancing the management and prognosis of this complex disorder.

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Section: Pathophysiologymentioning

confidence: 99%