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Updated: Nov 2, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene]
Yuping Niu1, Sexin Huang, Peiwen Xu
1Center for Reproductive Medicine Research, Shandong University; National Research Center for Assisted Reproductive Technology and Reproductive Genetics; Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250001, China. gaoyuan@sduivf.com.
Objective:
To explore the genetic basis for a patient with tuberous sclerosis complex.
Methods:
Genomic DNA was extracted from peripheral blood samples from members of his family and 100 unrelated healthy controls. The proband was subjected to next-generation sequencing, and candidate variant was confirmed by multiple ligation-dependent probe amplification (MLPA) and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was carried out to determine the relative mRNA expression in the proband.
Results:
The patient was found to harbor a c.2355+1G>C splicing variant of the TSC2 gene. Sequencing of cDNA confirmed that 62 bases have been inserted into the 3' end of exon 21, which has caused a frameshift producing a truncated protein.
Conclusion:
The novel splicing variant c.2355+1G>C of the TSC2 gene probably underlay the TSC in the proband. Above finding has expanded the variant spectrum of TSC2 and provided a basis for preimplantation genetic testing and/or prenatal diagnosis.
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