ArticleJournal of human genetics2021
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Upstream regulatory mechanisms and clinical significance of IQGAP2 deficiency in affecting PI3K activity to drive cell proliferation.Human cell · 2026Article
- Comparative Evaluation of CT and MRI in Detecting Intracranial and Extracranial Manifestations of Tuberous Sclerosis Complex.Neuropsychiatric disease and treatment · 2026Article
- Identify the origin of de novo variants in TSC patients by ddPCR.Acta epileptologica · 2025Article
- The Activation of the Microglial NLRP3 Inflammasome Is Involved in Tuberous Sclerosis Complex-Related Neuroinflammation.International journal of molecular sciences · 2025Article
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.Genetics and molecular biology · 2024Article
- Multi-omics data integration reveals the molecular network of dysregulation IQGAP2-mTOR promotes cell proliferation.Human cell · 2023Article
- Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Genetic testing of TSC1 and TSC2 is important for the diagnosis of tuberous sclerosis complex (TSC), an autosomal dominant neurocutaneous disease. This study retrospectively reviewed 347 samples from patients with clinically suspected TSC being tested for mutations in TSC1 and TSC2 genes using next-generation sequencing and multiplex ligation-dependent probe amplification. Two hundred eighty-one patients (80.98%) were classified as definite/possible/uncertain diagnosis of TSC and the mutational spectrum of TSC1/TSC2 was described. Two hundred eighteen unique nonsynonymous SNVs/Indels (64 in TSC1, 154 in TSC2) and 13 copy number variants (CNVs) were identified in 241 samples (85.77%), including 82 novel variants. CNVs involving 12 large deletions and one duplication were detected exclusively in TSC2. Both TSC1 and TSC2 mutations were nearly uniformly distributed in their protein-coding regions. Furthermore, a string of non-TSC1/TSC2 deleterious variants in 12 genes was identified in the patients, especially overwhelmingly present in the patients with no mutation identified (NMI) in TSC1/TSC2. Our study provides a comprehensive TSC1/TSC2 mutation landscape and reveal some potential risk non-TSCs variants present in patients with NMI.
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Registered trials
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