Tuberous sclerosis complex

Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex

C. R. Mi, Wang, H., Jiang, H., Sun, R. P., and Wang, G. X., “Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex”, vol. 13. pp. 2102-2106, 2014.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two Chinese Han children with TSC whose first clinical manifestation was seizure.

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children

G. - X. Wang, Wang, D. - W., Yi, C. - Y., Qu, J. - S., and Wang, Y. - L., “Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children”, vol. 12, pp. 1168-1175, 2013.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder characterized by hamartomas in multiple organs and is caused by a wide spectrum of mutations in 1 of 2 causative genes (TSC1 or TSC2). Here, we present mutational analyses of the TSC1 and TSC2 genes in 4 cases of TSC in Chinese Han children, including 2 familial and 2 sporadic cases, using PCR and DNA sequencing of the entire coding region as well as exon-intron boundaries of these genes. Three mutations were identified in the TSC2 gene.

A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex

G. - X. Wang, Wang, D. - W., Zhao, J. - S., Wang, S. - F., and Sun, R. - P., “A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex”, vol. 10. pp. 107-113, 2011.

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the lateral ventricles. The TSC1 and TSC2 genes were studied by PCR and direct sequencing of the entire coding region and exon-intron boundaries of these genes.

Subscribe to Tuberous sclerosis complex