Chen Jian, Sun Hairui, Han Ling, Gu Xiaoyan, Hao Xiaoyan, Fu Yuwei, Weng Zongjie, Xiong Yi, Liu Baomin, Zhang Hongjia, He Yihua, Li Hong
Department of Echocardiography, The First Affiliated Hospital of Shenzhen University, Shenzhen Second People's Hospital, Shenzhen, China.
Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography, Beijing An Zhen Hospital, Capital Medical University, Beijing, China.
Int J Genomics. 2025 May 8;2025:6963280. doi: 10.1155/ijog/6963280. eCollection 2025.
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. 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. 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 gene and 10 variants of gene, encompassing 8 frameshift variants, 2 nonsense variants, and 2 missense variants. This study broadens the spectrum of variants of and genes, reaffirming the clinical diagnosis of patients through genetic testing.
本研究旨在评估新鉴定的结节性硬化症复合物1（TSC1）和TSC2变体的致病性，为结节性硬化症的诊断提供确凿证据。共有103例结节性硬化症患者按照标准化方案进行了TSC基因检测，并将基因检测扩展至他们各自的家族。基于2012年国际结节性硬化症协会修订版，对基因检测结果的分析考虑了临床表型和基因致病性。在参与者中，12例表现出相关数据库中未报告的TSC1或TSC2基因变体。所有12例临床诊断为结节性硬化症的患者均表现出典型的表型，如脑部病变和皮肤改变。值得注意的是，有2个基因变体和10个基因变体，包括8个移码变体、2个无义变体和2个错义变体。本研究拓宽了和基因变体的范围，通过基因检测再次确认了患者的临床诊断。
