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

Comparative and Functional Genomics Pub Date : 2025-05-08 DOI:10.1155/ijog/6963280

Jian Chen, Hairui Sun, Ling Han, Xiaoyan Gu, Xiaoyan Hao, Yuwei Fu, Zongjie Weng, Yi Xiong, Baomin Liu, Hongjia Zhang, Yihua He, Hong Li

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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.

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携带TSC1和TSC2基因新变体的中国结节性硬化症患者的基因型和表型分析

背景：本研究旨在评估新发现的结节性硬化症复合体1 （TSC1）和TSC2变异的致病性，为TSC的诊断提供明确的证据。方法：103例TSC患者采用标准化方案进行TSC基因检测，并将基因检测扩展到各自的家庭。基于国际TSC协会2012年修订版考虑临床表型和基因致病性的基因检测结果分析。结果：在参与者中，12人表现出相关数据库中没有的先前未报道的TSC1或TSC2基因变体。12例临床诊断的TSC患者均表现出典型的表型，如脑病变和皮肤改变。值得注意的是，TSC1基因有2个变异体，TSC2基因有10个变异体，包括8个移码变异体、2个无义变异体和2个错义变异体。结论：本研究拓宽了TSC1和TSC2基因变异谱，重申了通过基因检测对患者的临床诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Comparative and Functional Genomics 生物-生化与分子生物学

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2 months