title: TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.
abstract: Tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of TSC1 and TSC2 genes. Tuberous sclerosis complex presents diverse clinical characteristics, and either of TSC1 and TSC2 genes shows a wide range of mutations in their coding regions. However, the correlation between genotype and phenotype is yet unknown. We describe the clinical characteristics of a Chinese family with TSC1 gene mutation and present a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex.
authors.affiliation: Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 1665 Kong jiang Road, Shanghai, 200092, People's Republic of China, zhangyu0330@126.com.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Gan
authors.forename: Zheng
authors.initials: Z
authors.lastname: Pu
authors.forename: Ming ming
authors.initials: Mm
authors.lastname: Xu
authors.forename: Li feng
authors.initials: Lf
authors.lastname: Wang
authors.forename: Yu hua
authors.initials: Yh
authors.lastname: Li
authors.forename: Zhen guo
authors.initials: Zg
authors.lastname: Liu
mesh_terms: D019943:Amino Acid Substitution; D000927:Anticonvulsants / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics*; D001706:Biopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002681:China / Q000453:epidemiology; D004832:Epilepsy, Absence / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011859:Radiography; D014402:Tuberous Sclerosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; C000624650:TSC1 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins