TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

Yu Zhang, Jing Gan, Zheng Pu, Ming ming Xu, Li feng Wang, Yu hua Li, Zhen guo Liu

Journal: Neuromolecular medicine 2016;17(2):202-8

PMID: 25900779

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.

Address: 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, [email protected].

DOI: 10.1007/s12017-015-8354-x

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MeSH Terms: Amino Acid Substitution, Anticonvulsants, Asian People, Biopsy, Brain, Child, China, Epilepsy, Absence, Female, Genes, Dominant, Humans, Male, Mutation, Missense, Pedigree, Phenotype, Point Mutation, Radiography, Tuberous Sclerosis, Tuberous Sclerosis Complex 1 Protein, Tumor Suppressor Proteins