【摘 要】
：
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by hamartomas in multiple organ systems.It is caused by inactivating mutations in either the TSC1 or TSC2 gene.
【机 构】
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Institute of Pediatric Transhtional Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong
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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by hamartomas in multiple organ systems.It is caused by inactivating mutations in either the TSC1 or TSC2 gene.Eleven unrelated Chinese patients with TSC were investigated in the present study.Characteristic skin lesions such as hypomelanotic macules and the central nervous system features such as the epilepsy, cortical tubers and subependymal nodules were the most common symptoms that were observed in the patients.Various mutations in either the TSC1 or TSC2 gene were identified.Among the 11 patients, 10 harbored TSC2 mutations, whereas only 1 patient had a TSC1 gene mutation.A total of 11 different TSC2 and 1 TSC1 mutations were identified in the present study, of which 5 TSC2 and 1 TSC1 gene mutations were novel.The identification of TSC1/ TSC2 gene mutations confirmed the diagnosis of the 11 patients with TSC.Our study has expanded the spectrum of TSC1 and TSC2 gene mutations causing TSC.
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