ArticleJournal, genetic engineering & biotechnology2026
A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA splicing.
Article in Journal, genetic engineering & biotechnology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo explore the molecular mechanism of tuberous sclerosis type 2 caused by TSC2 synonymous mutations affecting normal splicing of precursor mRNA.
methodsReview and analyses clinical diagnosis and treatment process of a patient with tuberous sclerosis complex type 2, summarize the relationship between genotype and clinical phenotype. Use bioinformatics methods to analyses the effect of TSC2 gene synonymous mutations on precursor mRNA splicing and use in vivo splicing experiments and in vitro minigene experiments to verify the possible pathogenic mechanism of TSC2 gene synonymous mutations.
resultsThe proband exhibited tuberous sclerosis phenotype including epilepsy and depigmentation. A synonymous mutation in the TSC2 gene (c.1443G > A, p.Glu481=) associated with the phenotype was identified. Bioinformatics analysis suggested that this synonymous mutation may disrupt normal pre-mRNA splicing. Both in vivo splicing assays and minigene experiments confirmed that the synonymous mutation indeed affects proper pre-mRNA splicing.
conclusionTSC2 c.1443G > A (p.Glu481=) synonymous mutation may be associated with tuberous sclerosis type 2 by disrupting normal pre-mRNA splicing.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.