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Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. 2017

Tingting Yu, and Yingzhong He, and Niu Li, and Yunqing Zhou, and Zhiping Wang, and Qihua Fu, and Jiwen Wang, and Jian Wang
Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

OBJECTIVE The study was designed to identify pathogenic TSC1 or TSC2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (TSC). METHODS 11 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. All exons and exon-intron boundaries of the TSC1 and TSC2 gene of the patients were amplified by PCR. RESULTS A total of 11 different TSC2 and one TSC1 mutations were identified in the present study, of which five TSC2 and 1 TSC1 gene mutations were novel. Among the 11 patients, 10 harbored TSC2 mutations, whereas only one patient had a TSC1 gene mutation. The identification of TSC1/TSC2 gene mutations confirmed the diagnosis of the 11 patients with TSC. CONCLUSIONS Our study has expanded the spectrum of TSC1 and TSC2 gene mutations causing TSC. The identification of the TSC1/TSC2 gene mutations confirmed the diagnosis of the 11 patients with TSC.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002681 China A country spanning from central Asia to the Pacific Ocean. Inner Mongolia,Manchuria,People's Republic of China,Sinkiang,Mainland China
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077004 Tuberous Sclerosis Complex 1 Protein An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 2 PROTEIN (TSC2) and other signaling factors to negatively regulate MTORC1 signaling and affect cell growth and proliferation. Structurally, it interacts with TSC2 through its N-terminal, which also contains GSK-3BETA phosphorylation sites and a RHO-KINASE activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin-moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS. Hamartin
D000077005 Tuberous Sclerosis Complex 2 Protein An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation. It can also function as GTPASE-ACTIVATING PROTEIN (GAP) for RHEB GTPASE to activate mTORC1 independent of its role in the complex. Structurally, it interacts with TSC1 through its N-terminus, which also contains a leucine zipper and coiled-coil region. It also has multiple phosphorylation sites for different cell signaling kinases, a central coiled-coil region, a C-terminal GAP domain and CALMODULIN binding domain. Mutations in the TSC2 gene are associated with TUBEROUS SCLEROSIS. Tuberin,Tuberous Sclerosis 2 Protein
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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