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. 2025 May 8:2025:6963280.
doi: 10.1155/ijog/6963280. eCollection 2025.

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

Jian Chen  1 , Hairui Sun  2 , Ling Han  2 , Xiaoyan Gu  2 , Xiaoyan Hao  2 , Yuwei Fu  2 , Zongjie Weng  3 , Yi Xiong  4 , Baomin Liu  5 , Hongjia Zhang  6 , Yihua He  2 , Hong Li  7
Affiliations

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

Jian Chen et al. Int J Genomics. .

Abstract

Background: This study aimed to assess the pathogenicity of newly identified tuberous sclerosis Complex 1 (TSC1) and TSC2 variants, contributing definitive evidence for the diagnosis of TSC. Methods: A total of 103 TSC patients underwent TSC genetic testing using standardized protocols, and genetic testing was extended to their respective families. Analysis of genetic testing results considered clinical phenotype and gene pathogenicity based on the 2012 revision of the International Society of TSC. Results: Among participants, 12 exhibited previously unreported variants of TSC1 or TSC2 gene absent in relevant databases. All 12 clinically diagnosed TSC patients presented typical phenotypes, such as brain lesions and skin changes. Notably, there were 2 variants of TSC1 gene and 10 variants of TSC2 gene, encompassing 8 frameshift variants, 2 nonsense variants, and 2 missense variants. Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.

Keywords: TSC1; TSC2; diagnosis; point variant; tuberous sclerosis complex.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Molecular analysis identified 12 novel TSC gene variants by Sanger sequencing: T15, TSC2 c.853T>C; T19, TSC1 c.892_893insC; T20, TSC2 c.4113_4114insG; T23, TSC2 c.5384_5385delGC; T24, TSC2 c.4630A>T; T38, TSC2 c.2538del C; T40, TSC2 c.5227_5244delCGGCTCCGCCACATCAAG; T59, TSC2 c.1064_1065insG; T77, TSC2 c.910_911insG; T98, TSC2 c.T2678G; T101, TSC2 c.557delT; and T102, TSC1 c. 2623C>T. Ps, patient sequence; Rs, reference sequence. Black arrow: location of the variant site; red arrow: location of frameshift variant segment.
Figure 2
Figure 2
T15 is a TSC family genetic case. The figure shows the proband's father with multiple angiofibromas on his face.
Figure 3
Figure 3
Fetal echocardiography showed multiple masses in the right ventricular and ventricular septum (as indicated by the arrow).
See this image and copyright information in PMC

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